MCID: ANR002
MIFTS: 66

Aniridia

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Aniridia

MalaCards integrated aliases for Aniridia:

Name: Aniridia 54 12 23 50 24 25 29 13 52 42 14
Cataract with Late-Onset Corneal Dystrophy 54 29
Congenital Aniridia 25 29
Aniridia 1 71 29
Aniridia Type Ii 71
Aplasia of Iris 12
Absent Iris 25
Irideremia 25
An2 71
An1 71
an 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
aniridia:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Penetrance is 100%...

Classifications:



Summaries for Aniridia

NIH Rare Diseases : 50 aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris) and is usually associated with foveal hypoplasia (underdevelopment of the part of the eye responsible for sharp central vision). this combination can lead to decreased visual acuity and involuntary eye movements (nystagmus) in affected infants. people with aniridia may also have other eye problems including increased pressure in the eye (glaucoma), clouding of the lens of the eye (cataracts), and abnormalities of the cornea. many of these eye problems contribute to progressive vision loss in affected individuals. occasionally, people with aniridia have behavioral problems, developmental delay, and problems detecting odors. aniridia may occur either as an isolated eye abnormality or as part of the wilms tumor-aniridia-genital anomalies-retardation (wagr) syndrome. isolated aniridia may be caused by mutations in the pax6 gene and is inherited in an autosomal dominant pattern. last updated: 10/19/2016

MalaCards based summary : Aniridia, also known as cataract with late-onset corneal dystrophy, is related to foveal hypoplasia 1 and anterior segment dysgenesis 2, multiple subtypes, and has symptoms including visual impairment, nystagmus and strabismus. An important gene associated with Aniridia is PAX6 (Paired Box 6), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Regulation of beta-cell development. The drugs Chlorpromazine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and bone, and related phenotypes are cellular and homeostasis/metabolism

UniProtKB/Swiss-Prot : 71 Aniridia 1: A congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time.

Genetics Home Reference : 25 Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia).

OMIM : 54
Although called aniridia, this disorder is a panocular one taking its name from the noticeable iris hypoplasia seen in most cases. This feature can range from a readily visible, almost complete absence of the iris, through enlargement and irregularity of the pupil mimicking a coloboma, to small slit-like defects in the anterior layer seen only on transillumination with a slit-lamp. The effect on vision is similarly variable (summary by Jordan et al., 1992). (106210)

Wikipedia : 72 Aniridia is the absence of the iris, usually involving both eyes. It can be congenital or caused by a... more...

GeneReviews: NBK1360

Related Diseases for Aniridia

Diseases in the Aniridia family:

Aniridia 2 Aniridia 3

Diseases related to Aniridia via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 139, show less)
id Related Disease Score Top Affiliating Genes
1 foveal hypoplasia 1 32.0 CYP1B1 PAX6
2 anterior segment dysgenesis 2, multiple subtypes 32.0 FOXE3 PITX3
3 anterior segment dysgenesis 5, multiple subtypes 23.5 CAT CYP1B1 ELP4 FOXC1 FOXE3 KRT12
4 aniridia 2 12.2
5 aniridia 3 12.0
6 aniridia and absent patella 12.0
7 aniridia - ptosis - intellectual disability - familial obesity 12.0
8 hair-an syndrome 12.0
9 aniridia renal agenesis psychomotor retardation 12.0
10 wagr syndrome 11.9
11 gillespie syndrome 11.9
12 isolated aniridia 11.9
13 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 11.9
14 aniridia, partial, with unilateral renal agenesis and psychomotor retardation 11.8
15 sickle cell disease associated with an other hemoglobin anomaly 11.7
16 silver-russell syndrome due to an imprinting defect of 11p15 11.7
17 polydactyly of an index finger, unilateral 11.7
18 polydactyly of an index finger, bilateral 11.7
19 hemophagocytic syndrome associated with an infection 11.7
20 wilms tumor-aniridia-genital anomalies-retardation syndrome 11.7
21 acute lymphoblastic leukemia congenital sporadic aniridia 11.7
22 aniridia-intellectual disability syndrome 11.7
23 acanthosis nigricans 11.4
24 acute necrotizing encephalopathy 11.3
25 polydactyly, preaxial iii 11.2
26 encephalopathy, acute, infection-induced, 4 11.1
27 alopecia, neurologic defects, and endocrinopathy syndrome 11.0
28 anterior segment dysgenesis 4 10.8
29 anterior segment dysgenesis 3, multiple subtypes 10.8
30 anterior segment dysgenesis 1, multiple subtypes 10.8
31 anterior segment dysgenesis 6, multiple subtypes 10.8
32 ataxia neuropathy spectrum 10.7
33 immunodeficiency due to a classical component pathway complement deficiency 10.7
34 morel's ear 10.7
35 walker dyson syndrome 10.7
36 zazam sheriff phillips syndrome 10.7
37 aneurysm 10.7
38 axenfeld-rieger syndrome, type 1 10.7
39 foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis 10.7
40 anterior segment dysgenesis 8 10.7
41 wilms tumor susceptibility-5 10.7
42 anterior segment dysgenesis 7, with sclerocornea 10.7
43 hypogonadotropic hypogonadism 24 without anosmia 10.7 ELP4 PAX6
44 leukemia 10.7
45 breast cancer 10.7
46 larsen-like syndrome 10.6 FOXC1 PITX2
47 hepatitis 10.6
48 meningitis 10.6
49 myocardial infarction 10.6
50 asthma 10.6
51 aortic aneurysm 10.6
52 cerebritis 10.6
53 jag1-related alagille syndrome 10.6 FOXC1 PAX6 TRIM44
54 mitral valve prolapse, myxomatous 3 10.5 FOXC1 PITX2
55 coloboma of optic nerve 10.5 ELP4 PAX6 TRIM44
56 familial male-limited precocious puberty 10.5 CYP1B1 PITX2
57 parietal foramina 10.5 FOXC1 PAX6 PITX2
58 epileptic encephalopathy, early infantile, 31 10.5 PAX6 WT1
59 conjunctival folliculosis 10.4 CYP1B1 FOXC1 PITX2
60 taeniasis 10.4 CYP1B1 FOXC1 PITX2
61 cardiac arrhythmia, ankyrin-b-related 10.4 FOXC1 PITX2
62 renal, genital, and middle ear anomalies 10.4 OTX2 PAX6
63 ring dermoid of cornea 10.4 PAX6 PITX2 PITX3
64 wrinkles 10.4 LUZP2 PAX6 WT1
65 cataract 10.3
66 anorectal stricture 10.3 FOXE3 PAX6 PITX3
67 nail disorder, nonsyndromic congenital, 1 10.3 CYP1B1 FOXC1 PITX2
68 glaucoma 3a, primary open angle, congenital, juvenile, or adult onset 10.3 CYP1B1 FOXC1 PAX6 PITX2
69 anal spasm 10.3 FOXE3 OTX2 PAX6
70 cervical wilms' tumor 10.2 PAX6 WT1
71 lactocele 10.2 CYP1B1 FOXC1 PAX6 PITX2
72 type i ehlers-danlos syndrome 10.2 CYP1B1 FOXC1 PAX6 PITX2
73 cataract 11, multiple types 10.2 FOXE3 PAX6 PITX2 PITX3
74 keratopathy 10.1
75 ataxia 10.1
76 cerebellar ataxia 10.0
77 retinitis 10.0
78 skin granular cell tumor 10.0 ELP4 FOXC1 PAX6 PITX2 WT1
79 adrenal cortical hypofunction 10.0 FOXC1 PAX6 PDX1 PITX2
80 ptosis 9.9
81 retinal detachment 9.9
82 gonadoblastoma 9.9
83 malignant tumor of undescended testis 9.9 FOXE3 OTX2 PAX6
84 apoa1-related familial visceral amyloidosis 9.9 OTX2 PAX6
85 albinism 9.9
86 hemihypertrophy 9.9
87 myopia 9.8
88 coloboma 9.8
89 endotheliitis 9.8
90 keratitis 9.8
91 retinoblastoma 9.7
92 beckwith-wiedemann syndrome 9.7
93 ectropion 9.7
94 pheochromocytoma 9.7
95 microphthalmia 9.7
96 short syndrome 9.7
97 breast-ovarian cancer, familial, 2 9.6 CYP1B1 FOXC1 FOXE3 PAX6 PITX2 PITX3
98 congenital stationary night blindness 9.6 PAX4 PAX6 PDX1
99 limbal stem cell deficiency 9.6
100 retinal degeneration 9.6
101 darier disease 9.6
102 renal tubular acidosis 9.6
103 chorioretinitis 9.6
104 subependymoma 9.6
105 split foot 9.6
106 thrombocytopenia 9.6
107 traumatic glaucoma 9.6
108 autosomal dominant polycystic kidney disease 9.6
109 split hand 9.6
110 tuberous sclerosis 9.6
111 oculocutaneous albinism 9.6
112 axenfeld-rieger syndrome 9.6
113 congenital nystagmus 9.6
114 cardiomyopathy 9.6
115 down syndrome 9.6
116 lymphoma 9.6
117 iris hypoplasia 9.6
118 sclerocornea 9.6
119 ventricular septal defect 9.6
120 hemophilia 9.6
121 polycystic kidney disease 9.6
122 hallermann-streiff syndrome 9.6
123 megalocornea 9.6
124 omenn syndrome 9.6
125 glucose intolerance 9.6
126 meningocele 9.6
127 pseudohermaphroditism 9.6
128 hypospadias 9.6
129 craniopharyngioma 9.6
130 hydrocephalus 9.6
131 bullous keratopathy 9.6
132 endophthalmitis 9.6
133 congenital aphakia 9.6
134 optic nerve hypoplasia 9.6
135 astigmatism 9.6
136 kidney disease 9.6
137 ring chromosome 6 9.6
138 pulmonary interstitial glycogenosis 9.6
139 isolated microphthalmia 9.2 CYP1B1 ELP4 FOXC1 FOXE3 PAX6 PITX2

Graphical network of the top 20 diseases related to Aniridia:



Diseases related to Aniridia

Symptoms & Phenotypes for Aniridia

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
glaucoma
cataract
decreased vision
corneal clouding
aniridia
more
Head And Neck- Nose:
reduced olfaction

Neurologic- Central Nervous System:
hypoplastic corpus callosum
hypoplastic or absent anterior commissure
absent pineal gland (in some patients)
hypoplastic or absent olfactory bulb (rare)
polymicrogyria (rare)


Clinical features from OMIM:

106210

Human phenotypes related to Aniridia:

32 (showing 32, show less)
id Description HPO Frequency HPO Source Accession
1 visual impairment 32 hallmark (90%) HP:0000505
2 nystagmus 32 hallmark (90%) HP:0000639
3 strabismus 32 frequent (33%) HP:0000486
4 umbilical hernia 32 occasional (7.5%) HP:0001537
5 ptosis 32 frequent (33%) HP:0000508
6 glaucoma 32 frequent (33%) HP:0000501
7 global developmental delay 32 occasional (7.5%) HP:0001263
8 microcornea 32 occasional (7.5%) HP:0000482
9 intellectual disability 32 occasional (7.5%) HP:0001249
10 cataract 32 HP:0000518
11 keratoconus 32 occasional (7.5%) HP:0000563
12 photophobia 32 frequent (33%) HP:0000613
13 optic nerve hypoplasia 32 frequent (33%) HP:0000609
14 macular hypoplasia 32 frequent (33%) HP:0001104
15 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
16 ectopia lentis 32 frequent (33%) HP:0001083
17 aniridia 32 HP:0000526
18 optic nerve coloboma 32 occasional (7.5%) HP:0000588
19 keratoconjunctivitis sicca 32 frequent (33%) HP:0001097
20 short palpebral fissure 32 frequent (33%) HP:0012745
21 corneal neovascularization 32 frequent (33%) HP:0011496
22 opacification of the corneal stroma 32 frequent (33%) HP:0007759
23 corneal erosion 32 frequent (33%) HP:0200020
24 aplasia/hypoplasia of the iris 32 hallmark (90%) HP:0008053
25 abnormality of the sense of smell 32 occasional (7.5%) HP:0004408
26 abnormality of the genital system 32 occasional (7.5%) HP:0000078
27 iris hypopigmentation 32 occasional (7.5%) HP:0007730
28 aplasia/hypoplasia of the corpus callosum 32 occasional (7.5%) HP:0007370
29 abnormality of the hypothalamus-pituitary axis 32 occasional (7.5%) HP:0000864
30 hypoplasia of the fovea 32 HP:0007750
31 macular hypopigmentation 32 frequent (33%) HP:0007988
32 abnormality of the dentition 32 occasional (7.5%) HP:0000164

MGI Mouse Phenotypes related to Aniridia:

44 (showing 9, show less)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.16 CAT FOXC1 LGR4 NR2E1 OTX2 PAX6
2 homeostasis/metabolism MP:0005376 10.11 CAT CYP1B1 FOXC1 LGR4 OTX2 PAX4
3 growth/size/body region MP:0005378 10.1 WT1 FOXC1 LGR4 NR2E1 OTX2 PAX4
4 endocrine/exocrine gland MP:0005379 10.09 FOXC1 LGR4 OTX2 PAX4 PAX6 PDX1
5 normal MP:0002873 9.91 PAX4 PAX6 PDX1 PITX2 WT1 FOXC1
6 liver/biliary system MP:0005370 9.8 FOXC1 LGR4 PDX1 PITX2 PITX3 WT1
7 reproductive system MP:0005389 9.56 FOXC1 LGR4 NR2E1 OTX2 PAX6 PITX2
8 pigmentation MP:0001186 9.55 FOXC1 OTX2 PAX6 PITX2 PITX3
9 vision/eye MP:0005391 9.28 CYP1B1 FOXC1 KRT12 LGR4 NR2E1 OTX2

Drugs & Therapeutics for Aniridia

Drugs for Aniridia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 78, show less)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Chlorpromazine Approved, Vet_approved Phase 4 50-53-3 2726
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
4
Carbon monoxide Approved Phase 4 630-08-0 281
5
Cocaine Approved, Illicit Phase 4 50-36-2 5760 446220
6
Nicotine Approved Phase 4 54-11-5 942 89594
7
Imidacloprid Vet_approved Phase 4 105827-78-9 86418
8 Vaccines Phase 4
9 Central Nervous System Depressants Phase 4
10 Gastrointestinal Agents Phase 4
11 Peripheral Nervous System Agents Phase 4
12 Antimetabolites Phase 4,Phase 2
13 Antidepressive Agents Phase 4
14 Antiemetics Phase 4
15 Antimanic Agents Phase 4
16 Antipsychotic Agents Phase 4
17 Autonomic Agents Phase 4
18 Dopamine Agents Phase 4
19 Dopamine Antagonists Phase 4
20 Lithium carbonate Phase 4 554-13-2
21 Neurotransmitter Agents Phase 4
22 Neurotransmitter Uptake Inhibitors Phase 4
23 Psychotropic Drugs Phase 4
24
Serotonin Phase 4 50-67-9 5202
25 Serotonin Agents Phase 4
26 Serotonin Uptake Inhibitors Phase 4
27 Tranquilizing Agents Phase 4
28
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
29
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
30
Tamoxifen Approved Phase 3 10540-29-1 2733526
31
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
32
Fluorouracil Approved Phase 3,Phase 2 51-21-8 3385
33
Doxil Approved June 1999 Phase 3 31703
34 Hormones Phase 3
35 Albumin-Bound Paclitaxel Phase 3
36 Anti-Bacterial Agents Phase 3
37 Antibiotics, Antitubercular Phase 3
38 Antimitotic Agents Phase 3,Phase 2,Phase 1
39 Antineoplastic Agents, Hormonal Phase 3
40 Antineoplastic Agents, Phytogenic Phase 3
41 Bone Density Conservation Agents Phase 3
42 Estrogen Antagonists Phase 3
43 Estrogen Receptor Modulators Phase 3
44 Estrogens Phase 3
45 Hormone Antagonists Phase 3
46 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
47 Selective Estrogen Receptor Modulators Phase 3
48 taxane Phase 3
49 Topoisomerase Inhibitors Phase 3
50
s 1 (combination) Phase 3
51
Capecitabine Approved, Investigational Phase 2 154361-50-9 60953
52
Levoleucovorin Approved Phase 2 68538-85-2
53
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 5310940 9887054 43805 6857599
54
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
55
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
56
Docetaxel Approved May 1996, Investigational Phase 2,Phase 1 114977-28-5 148124 9877265
57 Antimetabolites, Antineoplastic Phase 2
58 Folate Nutraceutical Phase 2
59 Vitamin B9 Nutraceutical Phase 2
60 Pharmaceutical Solutions Phase 1
61
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
62
Hydromorphone Approved, Illicit 466-99-9 5284570
63
Ropivacaine Approved 84057-95-4 71273 175805
64
Calcium Carbonate Approved 471-34-1
65
Menthol Approved 2216-51-5 16666
66 Adjuvants, Anesthesia
67 Analgesics
68 Analgesics, Opioid
69 Anesthetics
70 Anesthetics, General
71 Anesthetics, Intravenous
72 Anesthetics, Local
73 Narcotics
74 Antacids
75 Anti-Ulcer Agents
76 Calcium, Dietary
77 Hemostatics
78 Cola Nutraceutical

Interventional clinical trials:

(showing 30, show less)

id Name Status NCT ID Phase Drugs
1 Study on Effectiveness of 2-dose Live Attenuated Varicella Vaccine Unknown status NCT02146469 Phase 4
2 Malnutrition in Gastroenterology Patients Completed NCT00168935 Phase 4 Fresubin protein energy Drink (CAVE! nutritional intervention)
3 Comparison of Combination Olanzapine+Lithium or Chlorpromazine+Lithium in Treatment of First Manic Episode With Psychotic Features Recruiting NCT00202293 Phase 4 Olanzapine;Lithium;Chlorpromazine
4 Smartphone App and CO Self-monitoring for Smoking Cessation Not yet recruiting NCT02840513 Phase 4
5 Physical Activity and Breast Cancer Risk in Postmenopausal Women:the SHAPE Study Completed NCT00359060 Phase 3
6 Chemotherapy vs Hormonal Treatment in Platinum-resistant Ovarian Cancer Resistant or Refractory to Platinum and Taxane Completed NCT02728622 Phase 3 Tamoxifen;Chemotherapy
7 Study of S-1, S-1/CDDP, and 5-FU/CDDP for Advanced Gastric Cancer Completed NCT00202969 Phase 3 S-1;S-1 plus CDDP;5-FU plus CDDP
8 Cultivated Stem Cell Transplantation for the Treatment of Limbal Stem Cell Deficiency Unknown status NCT00845117 Phase 1, Phase 2
9 Docetaxel and Oxaliplatin in Gastric Cancer Completed NCT00382720 Phase 2 Docetaxel + Oxaliplatin;Docetaxel + Oxaliplatin + 5-FU;Docetaxel + Oxaliplatin + Capecitabine
10 Limbal Epithelial Stem Cell Transplantation: a Phase II Multicenter Trial Recruiting NCT02318485 Phase 2
11 Study of Ataluren in Patients With Aniridia Active, not recruiting NCT02647359 Phase 2 Ataluren;Placebo
12 Dose Escalation, Safety and Pharmacokinetic Study of AVE8062 Combined With Docetaxel in Patients With Advanced Solid Tumors Completed NCT01907685 Phase 1 AVE8062;Docetaxel
13 Correlation of Gene Abnormalities and Clinical Manifestations of Aniridia Completed NCT00265590
14 Positive Angle Kappa Completed NCT01644552
15 Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions Completed NCT00758108
16 Safety of Cardiac Pacemakers in 1.5T Tesla MRI Completed NCT00336011
17 Abnormalities of the Eye's Anterior Chamber, Iris, Cornea and Lens Completed NCT00001161
18 Safety and Performance Study of the ARGOS-IO System in Patients Undergoing Boston Keratoprosthesis Implantation Completed NCT02945176
19 Analgesic Effect of Ropivacaine Plus Fentanyl vs Ropivacaine for Continuous 3-in-1 FNB After Total Knee Arthroplasty Completed NCT02501863 Femoral nerve block with ropivacaine+fentanyl;Femoral nerve block with ropivacaine
20 Effect of a High Calcium Breakfast on Exercise Metabolism and Appetite Completed NCT01358591
21 Tango for Treatment of Motor and Non-motor Manifestations in Parkinson's Disease. Completed NCT01573260 Early Phase 1
22 Promoting Sleep to Prevent Substance Use in Adolescence Completed NCT02463188
23 Study of the Pathophysiological Mechanisms Involved in Bleeding Events Completed NCT01314560
24 Genetics of Wilms' Tumor and/or the Associated Conditions of Aniridia, Hemihypertrophy, and Genitourinary Anomalies Recruiting NCT00503893
25 Safety and Effectiveness of the CustomFlex Artificial Iris Prosthesis for the Treatment of Iris Defects Recruiting NCT01860612
26 One-hour Troponin in a Low-prevalence Population of Acute Coronary Syndrome Recruiting NCT02983123
27 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
28 Sleep and Survival in Colorectal Cancer Recruiting NCT03254836
29 Morcher Artificial Iris Devices to Treat Light and Glare Sensitivity in Partial or Complete Aniridia Active, not recruiting NCT00812708
30 Pre-Operative Forearm Exercise On Arteriovenous Fistula Mauration Not yet recruiting NCT03137680

Search NIH Clinical Center for Aniridia

Cochrane evidence based reviews: aniridia

Genetic Tests for Aniridia

Genetic tests related to Aniridia:

id Genetic test Affiliating Genes
1 Aniridia 1 29
2 Cataract with Late-Onset Corneal Dystrophy 29
3 Aniridia 29 24 PAX6
4 Congenital Aniridia 29

Anatomical Context for Aniridia

MalaCards organs/tissues related to Aniridia:

39
Eye, Kidney, Bone, Pituitary, Breast, Hypothalamus, Pineal

Publications for Aniridia

Articles related to Aniridia:

(showing 557, show less)
id Title Authors Year
1
PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with 7 novel pathogenic variants. ( 28488383 )
2017
2
A mouse model of aniridia reveals the in vivo downstream targets of Pax6 driving iris and ciliary body development in the eye. ( 27771509 )
2017
3
Newly identified paired box 6 mutation of variant familial aniridia: Congenital iris ectropion with foveal hypoplasia. ( 28300742 )
2017
4
Diagnostic impact of anterior segment angiography of limbal stem cell insufficiency in PAX6 related aniridia. ( 28906020 )
2017
5
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH. ( 28231309 )
2017
6
Molecular Analysis of Patients with Aniridia in Russian Federation Broadens the Spectrum of PAX6 Mutations. ( 28321846 )
2017
7
Clinical anatomy of the anterior chamber angle in congenital aniridia: And consequences for trabeculotomy/cyclophotocoagulation. ( 28613427 )
2017
8
Prevalence, Incidence, and Risk Factors for the Development of Glaucoma in Patients With Aniridia. ( 28510772 )
2017
9
Novel variants in PAX6 gene caused congenital aniridia in two Chinese families. ( 28157223 )
2017
10
Clinical and morphological manifestations of aniridia-associated keratopathy on anterior segment optical coherence tomography and inA vivo confocal microscopy. ( 28698011 )
2017
11
Congenital aniridia with cataract: case series. ( 28676040 )
2017
12
Topical bevacizumab treatment in aniridia. ( 28620705 )
2017
13
Iris reconstruction using artificial iris prosthesis for management of aniridia. ( 28574137 )
2017
14
The Genetics of Congenital Aniridia - A Guide for the Ophthalmologist. ( 28923585 )
2017
15
PAX6 aniridia syndrome: clinics, genetics, and therapeutics. ( 28598868 )
2017
16
Efficacy of Postnatal InA Vivo Nonsense Suppression Therapy in a Pax6 Mouse Model of Aniridia. ( 28624217 )
2017
17
Experimental assessment of novel PAX6 splicing mutations in two Chinese families with aniridia. ( 28760551 )
2017
18
Management of aniridia and iris defects: an update on iris prosthesis options. ( 26871656 )
2016
19
Chronic post-operative iris prosthesis endophthalmitis in a patient with traumatic aniridia: a case report. ( 27829389 )
2016
20
Large Pupils in Infancy. . .Suspected Aniridia. ( 26835993 )
2016
21
Prevention of Silicone Oil Migration and Baerveldt Tube Blockage in Retinal Detachment Surgery with Partial Aniridia. ( 27116526 )
2016
22
Assessment of PAX6 alleles in 66 families with aniridia. ( 26661695 )
2016
23
Combined cataract phacoemulsification and aniridia endocapsular rings implantation in a patient with bilateral congenital aniridia and cataract: A case report. ( 26949363 )
2016
24
Genotype-phenotype correlation of PAX6 gene mutations in aniridia. ( 27081561 )
2016
25
Clinical utility gene card for: Aniridia. ( 27381094 )
2016
26
Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations. ( 26849621 )
2016
27
Long-term results after artificial iris implantation in patients with aniridia. ( 26892143 )
2016
28
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. ( 27124303 )
2016
29
Aniridia after blunt trauma and presumed wound dehiscence in a pseudophakic eye. ( 26840167 )
2016
30
The Triad of Non-progressive Cerebellar Ataxia, Partial Aniridia and Psychomotor Delay - Gillespie Syndrome. ( 27109391 )
2016
31
Congenital Aniridia with Ectopia Lentis. ( 27630877 )
2016
32
Congenital Aniridia and the Ocular Surface. ( 26738798 )
2016
33
Identification of a novel frameshift heterozygous deletion in exonA 8 of the PAX6 gene in a pedigree with aniridia. ( 27431685 )
2016
34
PAX6, brain structure and function in human adults: advanced MRI in aniridia. ( 27231702 )
2016
35
Histopathology Findings of Corneal Buttons in Congenital Aniridia Patients. ( 27160090 )
2016
36
Transpupillary Argon Laser Cyclophotocoagulation in a Refractory Traumatic Glaucoma Patient with Aphakia and Aniridia. ( 27800256 )
2016
37
A nonsense PAX6 mutation in a family with congenital aniridia. ( 28018434 )
2016
38
Xenopus pax6 mutants affect eye development and other organ systems, and have phenotypic similarities to human aniridia patients. ( 25724657 )
2015
39
A rare PAX6 mutation in a Chinese family with congenital aniridia. ( 26535646 )
2015
40
A novel PAX6 deletion in a Chinese family with congenital aniridia. ( 25746674 )
2015
41
A familial pericentric inversion of chromosome 11 associated with a microdeletion of 163kb and microduplication of 288kb at 11p13 and 11q22.3 without aniridia or eye anomalies. ( 26419218 )
2015
42
Case of aniridia with a heterozygous PAX6 mutation in which the glucagon response to arginine was evaluated. ( 25621140 )
2015
43
Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family. ( 25687215 )
2015
44
Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia. ( 25678763 )
2015
45
Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression. ( 26394807 )
2015
46
Cultivated Oral Mucosa Epithelium in Ocular Surface Reconstruction in Aniridia Patients. ( 26451366 )
2015
47
Phacoemulsification with implantation of Morcher aniridia capsular rings for postoperative atonic pupil after iridencleisis--case report. ( 26349153 )
2015
48
A novel 11p13 microdeletion encompassing PAX6 in a Chinese Han family with aniridia, ptosis and mental retardation. ( 25628759 )
2015
49
A novel splice site mutation in the PAX6 gene in a Korean family with isolated aniridia. ( 25696017 )
2015
50
Keratopathy, cataract, and dry eye in a survey of aniridia subjects. ( 25709391 )
2015
51
Silicone Oil Retention Sutures for Retinal Detachment Repair Following Traumatic Aniridia, Aphakia, and Ruptured Globe. ( 26356004 )
2015
52
Combined cataract surgery and aniridia ring implantation in oculocutaneous albinism. ( 26703494 )
2015
53
Sutureless artificial iris after phacoemulsification in congenital aniridia. ( 25738840 )
2015
54
The efficacy and complications of black diaphragm intra-ocular lens implantation in patients with congenital aniridia. ( 26648453 )
2015
55
Anesthetic management of a patient with Wilms tumor, aniridia, genital anomalies and mental retardation syndrome undergoing right nephrectomy. ( 25948930 )
2015
56
Rare association of familial aniridia, microcornea with myopia and aphakia. ( 25100915 )
2014
57
Femtosecond cataract laser capsulotomy enabling optic capture and secondary sulcus iol insertion in an eye with traumatic aniridia and aphakia. ( 24972408 )
2014
58
Increased functional connectivity in intrinsic neural networks in individuals with aniridia. ( 25566032 )
2014
59
Aniridia: a comparative overview. ( 25313118 )
2014
60
Treatment of congenital aniridia associated with subluxated infantile cataract. ( 25195356 )
2014
61
The Clinical Characterization and Surgical Correction of Blepharoptosis Associated With Congenital Aniridia. ( 24911534 )
2014
62
LGR4/GPR48 inactivation leads to aniridia-genitourinary anomalies-mental retardation syndrome defects. ( 24519938 )
2014
63
A novel duplication in the PAX6 gene in a North Indian family with aniridia. ( 25189681 )
2014
64
Recurrent progressive anterior segment fibrosis syndrome following a descemet-stripping endothelial keratoplasty in an infant with congenital aniridia. ( 24618492 )
2014
65
Treatment of congenital aniridia associated with subluxated infantile cataract. ( 25568537 )
2014
66
Modified McCannel iridoplasty simulating basal iridectomy for silicone oil tamponade in aphakia and partial aniridia. ( 24771181 )
2014
67
Long-term efficacy and complications of black diaphragm intraocular lens implantation in patients with traumatic aniridia. ( 25370083 )
2014
68
A novel de novo duplication mutation of PAX6 in a Chinese family with aniridia and other ocular abnormalities. ( 24787241 )
2014
69
Three-year outcomes of cultured limbal epithelial allografts in aniridia and Stevens-Johnson syndrome evaluated using the Clinical Outcome Assessment in Surgical Trials assessment tool. ( 24443006 )
2014
70
Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia. ( 24737507 )
2014
71
Traumatic aniridia after trabeculectomy. ( 24651571 )
2014
72
Clinical Manifestations of Congenital Aniridia. ( 24369682 )
2014
73
Aniridia with a Heterozygous PAX6 Mutation in which the Pituitary Function was Partially Impaired. ( 24390526 )
2014
74
Congenital aniridia: long-term clinical course, visual outcome, and prognostic factors. ( 25435751 )
2014
75
Outcomes following Boston type 1 keratoprosthesis implantation in aniridia patients at the University of Montreal. ( 24844976 )
2014
76
Successful surgical repair of a massive window duct in a 1-month old with aniridia and pulmonary interstitial glycogenosis. ( 24848376 )
2014
77
A novel mutation of PAX6 identified in a Chinese twin family with congenital aniridia complicated with nystagmus. ( 25366758 )
2014
78
Outcomes of scleral-sutured conventional and aniridia intraocular lens implantation performed in a university hospital setting. ( 24560552 )
2014
79
Diadenosine polyphosphates in the tears of aniridia patients. ( 25545014 )
2014
80
Modified implantation of black diaphragm intraocular lens in traumatic aniridia. ( 23688869 )
2013
81
Traumatic partial aniridia and cataract after iris-fixated foldable phakic intraocular lens implantation. ( 24348404 )
2013
82
A review of the clinical and genetic aspects of aniridia. ( 24138039 )
2013
83
Increased corneal epithelial turnover contributes to abnormal homeostasis in the Pax6(+/-) mouse model of aniridia. ( 23967157 )
2013
84
A Novel CYP1B1 Mutation with Congenital Glaucoma and Total Aniridia. ( 24001018 )
2013
85
Complications after prosthetic iris implantation in a case of traumatic aniridia. ( 23629769 )
2013
86
Three cases with unusual ophthalmic phenotypes of congenital aniridia. ( 23931477 )
2013
87
PAX6 mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia? ( 23566044 )
2013
88
[Identification of a novel PAX6 mutation in a family with congenital aniridia]. ( 24078574 )
2013
89
Inherited KIF21A and PAX6 gene mutations in a boy with congenital fibrosis of extraocular muscles and aniridia. ( 23799907 )
2013
90
Isolated traumatic aniridia after trabeculectomy in a pseudophakic eye. ( 23571254 )
2013
91
A new customized artificial iris diaphragm for treatment of traumatic aniridia. ( 23131318 )
2013
92
Simultaneous correction of post-traumatic aphakia and aniridia with the use of artificial iris and IOL implantation. ( 23793912 )
2013
93
Black diaphragm intraocular lens implantation and penetrating keratoplasty in aphakic eyes with traumatic aniridia. ( 23638421 )
2013
94
Analysis of protein composition and protein expression in the tear fluid of patients with congenital aniridia. ( 24061003 )
2013
95
In vivo morphology of the limbal palisades of vogt correlates with progressive stem cell deficiency in aniridia-related keratopathy. ( 23860752 )
2013
96
Cataract development in Norwegian patients with congenital aniridia. ( 23826968 )
2013
97
Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia. ( 24266705 )
2013
98
Traumatic aniridia through opposite clear corneal incision in a pseudophakic eye. ( 23522587 )
2013
99
ExPRESS Shunt Surgery for Glaucoma with Post-Traumatic Aniridia. ( 24175645 )
2013
100
Guidelines for genetic study of aniridia. ( 23597644 )
2013
101
Treatment of aniridia with Boston type I keratoprosthesis. ( 23449480 )
2013
102
Intraocular pressure control with Ahmed glaucoma drainage device in patients with cicatricial ocular surface disease-associated or aniridia-related glaucoma. ( 24136034 )
2013
103
In vivo confocal microscopy of congenital aniridia-associated keratopathy. ( 23579408 )
2013
104
Complete Aniridia with Central Keratopathy and Congenital Glaucoma is a CYP1B1-related Phenotype. ( 23767995 )
2013
105
11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia. ( 23761016 )
2013
106
Aniridia associated with lens coloboma and secondary glaucoma treated with transcorneal argon laser ciliary body photocoagulation: a case report. ( 23898292 )
2013
107
Mutation analysis of paired box 6 gene in inherited aniridia in northern China. ( 23734086 )
2013
108
Simultaneous correction of aniridia and aphakia. ( 24075174 )
2013
109
Evaluation of chromosome 11p imbalances in aniridia and Wilms tumor patients. ( 23494989 )
2013
110
Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia. ( 24290376 )
2013
111
Positive angle kappa: a possible sign of aniridia. ( 22848114 )
2012
112
Glaucoma and frequency of ocular and general diseases in 30 patients with aniridia: a clinical study. ( 22167549 )
2012
113
PAX6 analysis of two sporadic patients from southern China with classic aniridia. ( 22919266 )
2012
114
A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia. ( 22509105 )
2012
115
Bilateral traumatic expulsive aniridia after phacoemulsification. ( 22837630 )
2012
116
Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation. ( 22171686 )
2012
117
Aniridia. ( 22692063 )
2012
118
A novel PAX6 deletion in a Chinese family with congenital aniridia. ( 22550392 )
2012
119
Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: identification of four novel mutations. ( 22393275 )
2012
120
Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia. ( 22991255 )
2012
121
Mutation analysis of PAX6 in inherited and sporadic aniridia from northeastern China. ( 22815628 )
2012
122
PAX6 3' deletion in a family with aniridia. ( 21985185 )
2012
123
Comparison between aniridia with and without PAX6 mutations: clinical and molecular analysis in 14 Korean patients with aniridia. ( 22361317 )
2012
124
Descemet-stripping automated endothelial keratoplasty for vitrectomized cases with traumatic aniridia and aphakic bullous keratopathy. ( 23055672 )
2012
125
Traumatic aniridia in a pseudophakic patient 6 years following surgery. ( 22347795 )
2012
126
Descemet's Stripping-Automated Endothelial Keratoplasty for Traumatic Aniridia and Aphakia. ( 22606506 )
2012
127
A novel PAX6 mutation in Chinese patients with severe congenital aniridia. ( 22621390 )
2012
128
Mutation analysis of PAX6 in a Chinese family and a patient with a presumed sporadic case of congenital aniridia. ( 21691140 )
2012
129
A new technique for treating posttraumatic aniridia with aphakia: first results of haptic fixation of a foldable intraocular lens on a foldable and custom-tailored iris prosthesis. ( 22801839 )
2012
130
A recurrent PAX6 mutation is associated with aniridia and congenital progressive cataract in a Chinese family. ( 22393272 )
2012
131
Surgical and visual outcomes of the type I Boston Keratoprosthesis for the management of aniridic fibrosis syndrome in congenital aniridia. ( 22265154 )
2012
132
Absence of NR2E1 mutations in patients with aniridia. ( 23213277 )
2012
133
Artificial iris-intraocular lens implantation for traumatic aniridia and aphakia assisted by silicone oil retention sutures. ( 23079319 )
2012
134
What's your diagnosis? Aniridic epitheliopathy associated with hereditary aniridia (PAX6+/-). ( 23627004 )
2011
135
Genetic and genomic analysis of classic aniridia in Saudi Arabia. ( 21423868 )
2011
136
Immunohistochemical expression of epithelial cell markers in corneas with congenital aniridia and ocular cicatrizing pemphigoid. ( 19558573 )
2011
137
Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia. ( 21633710 )
2011
138
Asymmetric phenotype of Axenfeld-Rieger anomaly and aniridia associated with a novel PITX2 mutation. ( 21617748 )
2011
139
Ocular and systemic findings in a survey of aniridia subjects. ( 22153401 )
2011
140
Cataract surgery after keratolimbal allograft surgery in patients with congenital aniridia. ( 21420607 )
2011
141
A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family. ( 21321669 )
2011
142
Traumatic aniridia in spared-lens open-globe rupture eye trauma. ( 21468733 )
2011
143
Congenital aniridia variant: minimally abnormal irides with severe limbal stem cell deficiency. ( 21376398 )
2011
144
PAX6 analysis of one family and one sporadic patient from southern China with classic aniridia. ( 22171157 )
2011
145
Ophthalmic images. Traumatic anterior subluxation of natural lens with aniridia and blood lining Descemet folds. ( 21280250 )
2011
146
Non-invasive anterior segment and posterior segment optical coherence tomography and phenotypic characterization of aniridia. ( 21816254 )
2011
147
Potential therapeutic efficacy of a virtual pupil made of polarizing plates for correction of aniridia. ( 21436278 )
2011
148
A case of aniridia with unilateral Peters anomaly. ( 21397818 )
2011
149
Mutation spectrum of PAX6 in Chinese patients with aniridia. ( 21850189 )
2011
150
Results and complications after implantation of a black iris-lens diaphragm in patients with traumatically induced aphakia and aniridia. ( 21445835 )
2011
151
Combined aniridia ring implantation and cataract surgery in an Axenfeld-Rieger syndrome: a UBM report. ( 21139500 )
2011
152
Large novel deletions detected in Chinese families with aniridia: correlation between genotype and phenotype. ( 21364908 )
2011
153
Concurrent presentation of aniridia and megalocornea without glaucoma. ( 21665500 )
2011
154
A [c.566-2A>G] heterozygous mutation in the PAX6 gene causes aniridia with mild visual impairment. ( 21274015 )
2011
155
Aniridia phenotype and myopia in a turkish boy with a PAX6 gene mutation. ( 21848007 )
2011
156
Aniridia rings implantation for treatment of congenital aniridia combined with cataract surgery: a case report. ( 22553596 )
2010
157
Managing total aniridia with aphakia using a glued iris prosthesis. ( 20457385 )
2010
158
Clinical features of Korean patients with congenital aniridia. ( 21052509 )
2010
159
Aniridia associated with aphakia and secondary glaucoma. ( 21052919 )
2010
160
Bilateral sporadic aniridia: review of management. ( 20957053 )
2010
161
Giant subependymoma developed in a patient with aniridia: analyses of PAX6 and tumor-relevant genes. ( 20500513 )
2010
162
Corneal involvement in congenital aniridia. ( 20567200 )
2010
163
Complications and visual prognosis in children with aniridia. ( 20635810 )
2010
164
A novel PAX6 mutation in a large Chinese family with aniridia and congenital cataract. ( 20664694 )
2010
165
Cataract surgery and aniridia. ( 19890208 )
2010
166
Traumatic aniridia and self-sealed globe rupture following blunt trauma. ( 20523360 )
2010
167
Long-term outcome of black diaphragm intraocular lens implantation in traumatic aniridia. ( 20424214 )
2010
168
Retinal detachment with giant oral dialysis in an eye with congenital aniridia. ( 20151290 )
2010
169
Complications and Visual Prognosis in Children with Aniridia. ( 24132811 )
2010
170
Clinical and molecular aspects of aniridia. ( 20132240 )
2010
171
Aniridia resulting from blunt trauma in a phakic eye. ( 20456442 )
2010
172
Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia. ( 20806047 )
2010
173
Aniridia-to be or not to be? ( 20177354 )
2010
174
Novel presentation of Omenn syndrome in association with aniridia. ( 19178939 )
2009
175
Posttraumatic aniridia following phacoemulsification. ( 19491999 )
2009
176
Management of glaucoma in a case of familial aniridia by trabeculectomy. ( 21141025 )
2009
177
[Mutation analysis of the PAX6 gene in a family with congenital aniridia and cataract]. ( 19806578 )
2009
178
[R240X mutation of the PAX6 gene in a Chinese family with congenital aniridia]. ( 19806579 )
2009
179
Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6. ( 19610080 )
2009
180
Genotype/phenotype association in Indian congenital aniridia. ( 19390808 )
2009
181
Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia. ( 19279310 )
2009
182
[Analysis of PAX6 gene in a Chinese family with congenital aniridia]. ( 20137456 )
2009
183
Bilateral aniridia lenticular coloboma and snowflake retinal degeneration. ( 19205498 )
2009
184
PAX6 aniridia and interhemispheric brain anomalies. ( 19862335 )
2009
185
Aniridia associated with congenital aphakia and secondary glaucoma. ( 19574704 )
2009
186
Morcher iris reconstruction lens and rigid contact lens for traumatic aniridia. ( 19265334 )
2009
187
A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group. ( 19793656 )
2009
188
Implantation of the black diaphragm intraocular lens in congenital and traumatic aniridia. ( 18486217 )
2008
189
[Two neonates with congenital aniridia: the necessity of genetic investigation]. ( 18402324 )
2008
190
Epidemiology of aniridia in Sweden and Norway. ( 18494745 )
2008
191
Inherited partial aniridia, microcornea with high myopia and Bergmeister's papilla: a new phenotypic expression. ( 18292626 )
2008
192
Long-term visual prognosis of corneal and ocular surface surgery in patients with congenital aniridia. ( 18631333 )
2008
193
PAX6 analysis of two unrelated families from the Arabian Peninsula with classic hereditary aniridia. ( 18766996 )
2008
194
Aniridia with congenital glaucoma. ( 18705628 )
2008
195
Aniridia with preserved visual function: a report of four cases with no mutations in PAX6. ( 18243151 )
2008
196
Pax6 3' deletion results in aniridia, autism and mental retardation. ( 18322702 )
2008
197
Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders. ( 18483559 )
2008
198
[A novel PAX6 mutation (c.1286delC) in the patients with hereditary congenital aniridia.]. ( 18930890 )
2008
199
Implantation of the Artisan iris reconstruction intraocular lens in 5 children with aphakia and partial aniridia caused by perforating ocular trauma. ( 18329923 )
2008
200
Transscleral sulcus fixation of a small-diameter iris-diaphragm intraocular lens in combined penetrating keratoplasty and cataract extraction for correction of traumatic cataract, aniridia, and corneal scarring. ( 19027578 )
2008
201
A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia. ( 18334930 )
2008
202
Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother. ( 18484311 )
2008
203
Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. ( 18241071 )
2008
204
Chronic wound state exacerbated by oxidative stress in Pax6+/- aniridia-related keratopathy. ( 18491289 )
2008
205
Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations. ( 18776953 )
2008
206
Aniridia: sight-threatening and hard to cure. ( 19032333 )
2008
207
Aniridia among children and teenagers in Sweden and Norway. ( 18494744 )
2008
208
[A novel mutation of the PAX6 gene identified in a northeastern Chinese family with congenital aniridia]. ( 18393239 )
2008
209
Aniridia. ( 18427263 )
2008
210
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. ( 17406642 )
2007
211
Two novel PAX6 mutations identified in northeastern Chinese patients with aniridia. ( 17893655 )
2007
212
De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease. ( 17031679 )
2007
213
Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion. ( 17630404 )
2007
214
Traumatic aniridia and aphakia after Artisan intraocular lens implantation. ( 17586400 )
2007
215
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation. ( 17595013 )
2007
216
Almost 9: a personal essay on parenting, aniridia, and being a doctor. ( 17954869 )
2007
217
Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations. ( 17485622 )
2007
218
Outcomes of Boston keratoprosthesis in aniridia: a retrospective multicenter study. ( 17543875 )
2007
219
Total aniridia after nonperforating trauma of a pseudophakic eye: ultrasound biomicroscopic findings. ( 18029934 )
2007
220
A deletion 3' to the PAX6 gene in familial aniridia cases. ( 17679951 )
2007
221
Visual function after implantation of aniridia intraocular lens for traumatic aniridia in vitrectomized eye. ( 17671946 )
2007
222
Cloning and characterization of canine PAX6 and evaluation as a candidate gene in a canine model of aniridia. ( 17417604 )
2007
223
Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: a new syndrome? ( 17702017 )
2007
224
Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation. ( 17454233 )
2007
225
Small glomeruli in WAGR (Wilms Tumor, Aniridia, Genitourinary Anomalies and Mental Retardation) syndrome. ( 17533022 )
2007
226
Traumatic expulsive aniridia after phacoemulsification. ( 17456949 )
2007
227
Management of intraoperative tilting of the scleral-fixated intraocular lens in classical aniridia. ( 17709587 )
2007
228
Three novel mutations of the PAX6 gene in Japanese aniridia patients. ( 17568989 )
2007
229
[Glaucoma with aniridia and isolated congenital glaucoma in siblings: contribution and limits of genetics]. ( 17287671 )
2007
230
Ahmed valve for elevated intraocular pressure associated with black diaphragm lenses for aniridia. ( 17534831 )
2007
231
A rare case of aniridia and balanced translocation (5;11) (p15.3;q22) arising in the same subject: a challenge for genetic counseling. ( 16719277 )
2006
232
Secondary prosthetic iris implantation following traumatic total aniridia and pseudophakia. ( 17081906 )
2006
233
Analysis of PAX6 gene in a Chinese aniridia family. ( 16934188 )
2006
234
Novel mutations of the PAX6 gene identified in Chinese patients with aniridia. ( 16785853 )
2006
235
Bilateral Duane syndrome and bilateral aniridia. ( 16814183 )
2006
236
Cell surface glycoconjugate abnormalities and corneal epithelial wound healing in the pax6+/- mouse model of aniridia-related keratopathy. ( 17122113 )
2006
237
Traumatic aniridia in a pseudophakic eye. ( 16565019 )
2006
238
Novel and de-novo truncating PAX6 mutations and ocular phenotypes in Thai aniridia patients. ( 16543198 )
2006
239
Vertical placement of aphakic Artisan intraocular lens in a patient with traumatic localized aniridia. ( 16931275 )
2006
240
[Study of genetic mutation locus in a family with congenital aniridia]. ( 17415970 )
2006
241
A highly complex rea(2;3;11) and aniridia by position effect. ( 16717455 )
2006
242
Congenital iris ectropion as an indicator of variant aniridia. ( 16622108 )
2006
243
PAX6 gene intragenic deletions in Mexican patients with congenital aniridia. ( 16617299 )
2006
244
Ultrasound biomicroscopy in traumatic aniridia 2 years after phacoemulsification. ( 17010879 )
2006
245
Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia. ( 16803629 )
2006
246
Traumatic aniridia after small incision cataract extraction. ( 16945571 )
2006
247
Evolving concepts on the pathogenic mechanisms of aniridia related keratopathy. ( 15618012 )
2005
248
Aniridia associated with ptosis in three generations of the same family. ( 15814051 )
2005
249
Association of aniridia and dry eyes. ( 16023212 )
2005
250
Endoscope-aided cataract surgery in corneal opacity associated with aniridia. ( 16105626 )
2005
251
Mutation analysis of PAX6 gene in a large Chinese family with aniridia. ( 15740668 )
2005
252
Central corneal thickness in patients with congenital aniridia. ( 16163015 )
2005
253
Severe ocular surface disease and glaucoma in a newborn with aniridia. ( 16213405 )
2005
254
Black diaphragm aniridia intraocular lens for aniridia and albinism. ( 15931549 )
2005
255
Developmental and cellular factors underlying corneal epithelial dysgenesis in the Pax6+/- mouse model of aniridia. ( 16080917 )
2005
256
Aniridia (PAX6(+/-)). ( 15825752 )
2005
257
Artificial iris-lens diaphragm in reconstructive surgery for aniridia and aphakia. ( 16246779 )
2005
258
Use of the artificial iris implant in patients with aniridia. ( 15786634 )
2005
259
A progressive anterior fibrosis syndrome in patients with postsurgical congenital aniridia. ( 16376654 )
2005
260
A novel PAX6 gene mutation in a Chinese family with aniridia. ( 15889018 )
2005
261
Mucous plaque keratitis associated with aniridia keratopathy. ( 15375363 )
2005
262
A case of novel de novo paired box gene 6 (PAX6) mutation with early-onset diabetes mellitus and aniridia. ( 15842522 )
2005
263
Aniridia and optic nerve hypoplasia. ( 15359227 )
2005
264
Decompression retinopathy after Ahmed glaucoma valve implantation in a patient with congenital aniridia and pseudophakia. ( 15210243 )
2004
265
Ocular and nonocular findings in patients with aniridia. ( 15559649 )
2004
266
Markedly increased central corneal thickness: an unrecognized finding in congenital aniridia. ( 14962429 )
2004
267
Aniridia and the ocular surface. ( 17216079 )
2004
268
Ultrasound biomicroscopic findings in aniridia. ( 15126150 )
2004
269
Employing endoscopic guidance for placement of a black diaphragm aniridia intraocular lens following destructive Acanthamoeba sclerokeratitis. ( 15031197 )
2004
270
PAX6 gene variations associated with aniridia in south India. ( 15086958 )
2004
271
Abnormal lens shape on CT in a patient with Aniridia. ( 14762425 )
2004
272
Characteristics and outcomes of children with the Wilms tumor-Aniridia syndrome: a report from the National Wilms Tumor Study Group. ( 14673045 )
2003
273
Three novel PAX6 mutations in patients with aniridia. ( 12782766 )
2003
274
Keratopathy in congenital aniridia. ( 17075635 )
2003
275
Implantation of a black diaphragm intraocular lens in ten cases of post-traumatic aniridia. ( 12635676 )
2003
276
Aniridia and Brachmann-de Lange syndrome: a review of ocular surface and anterior segment findings. ( 12605058 )
2003
277
The influence of keratoplasty on visual prognosis in aniridia: a historical review of one large family. ( 12605041 )
2003
278
PAX6 gene mutations and genotype-phenotype correlations in sporadic cases of aniridia from India. ( 12868034 )
2003
279
A novel PAX6 gene mutation in an Indian aniridia patient. ( 12789139 )
2003
280
Corneal abnormalities in Pax6+/- small eye mice mimic human aniridia-related keratopathy. ( 12714618 )
2003
281
Favorable outcome using a black diaphragm intraocular lens for traumatic aniridia with total iridectomy. ( 14709314 )
2003
282
De novo chromosome translocation t (2; 11) (p25.1; p13) in a patient with aniridia and genitourinary abnormalities. ( 12845852 )
2003
283
Thinning of the anterior capsule associated with congenital aniridia. ( 12663018 )
2003
284
Management of traumatic aniridia and aphakia with an iris reconstruction implant. ( 12842698 )
2003
285
Aniridia and Wilm's tumor. ( 14649484 )
2003
286
Black diaphragm intraocular lens implantation in aphakic eyes with traumatic aniridia and previous pars plana vitrectomy. ( 14670427 )
2003
287
Use of glaucoma drainage devices in the management of glaucoma associated with aniridia. ( 12566018 )
2003
288
PAX6 mutation as a genetic factor common to aniridia and glucose intolerance. ( 11756345 )
2002
289
Bilateral cataract surgery combined with implantation of a brown diaphragm intraocular lens after trabeculectomy for congenital aniridia. ( 12449232 )
2002
290
Prediction by FISH analysis of the occurrence of Wilms tumor in aniridia patients. ( 11920832 )
2002
291
Pars plana vitrectomy and transscleral fixation of black diaphragm intraocular lens for the management of traumatic aniridia. ( 12358287 )
2002
292
Phacoemulsification and endocapsular implantation of an artificial iris intraocular lens in traumatic cataract and aniridia. ( 12106708 )
2002
293
Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia. ( 12386836 )
2002
294
Aniridia as part of a WAGR syndrome in a girl whose brother presented hypospadias. ( 12150218 )
2002
295
Aniridia. ( 11912365 )
2002
296
Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6. ( 11590122 )
2001
297
Management of post-traumatic aniridia with retinal detachment. ( 12567593 )
2001
298
Hemorrhagic glaucoma in an infant with hemophilia, spontaneous hyphema, aniridia, and persistent iris vessels. ( 11304824 )
2001
299
Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia. ( 11479730 )
2001
300
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation. ( 11553050 )
2001
301
3' deletions cause aniridia by preventing PAX6 gene expression. ( 11087823 )
2000
302
Two cases of aniridia in Llanwenog sheep. ( 11083048 )
2000
303
The horse homolog of congenital aniridia conforms to codominant inheritance. ( 10768120 )
2000
304
Aniridia and Down syndrome. ( 11392414 )
2000
305
A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia. ( 10862096 )
2000
306
Black diaphragm aniridia intraocular lens for congenital aniridia: long-term follow-up. Reinhard T* engelhardt S, sundmacher R. J cataract refract surg 2000;26:375-381 ( 11004319 )
2000
307
Results of filtering surgery in young patients with aniridia. ( 11043521 )
2000
308
Prenatal diagnosis of aniridia. ( 10857836 )
2000
309
Corneal laceration with total but isolated aniridia caused by a pecking injury. ( 11020631 )
2000
310
Picture of the month. Congenital aniridia. ( 10807307 )
2000
311
A family with Rieger's syndrome and aniridia. ( 11040929 )
2000
312
Mutation in the PAX6 gene in twenty patients with aniridia. ( 10737978 )
2000
313
Renal failure in the Denys-Drash and Wilms' tumor-aniridia syndromes. ( 10945603 )
2000
314
Black diaphragm aniridia intraocular lens for congenital aniridia: long-term follow-up. ( 10713232 )
2000
315
Two nonsense mutations of PAX6 in two Japanese aniridia families: case report and review of the literature. ( 10887930 )
2000
316
A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia. ( 10955655 )
2000
317
Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. ( 10234503 )
1999
318
Run-on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridia. ( 10477494 )
1999
319
Implantation of a black diaphragm intraocular lens for traumatic aniridia. ( 10374162 )
1999
320
Non-Hodgkin's lymphoma in a child with congenital aniridia. ( 10204135 )
1999
321
A novel PAX6 frameshift mutation in a kindred from Atlantic Canada with familial aniridia. ( 10604054 )
1999
322
Intrarenal pelvic papillary Wilms' tumor associated with aniridia: a case report. ( 10445307 )
1999
323
Black iris-diaphragm intraocular lens for aniridia and aphakia. ( 10569174 )
1999
324
Various phenotypic expressions of familial aniridia with a PAX6 mutation. ( 10636680 )
1999
325
Aniridia, gonadoblastoma, Wilms' tumor and deletion 11p13. ( 9588071 )
1998
326
Identification of novel PAX6 mutations in two families with bilateral aniridia. Mutations in brief no. 167. Online. ( 10694925 )
1998
327
Missense mutations in the PAX6 gene in aniridia. ( 9856761 )
1998
328
Genotype/phenotype correlations in aniridia. ( 9727514 )
1998
329
Traumatic aniridia during endoscopic laser cycloablation. ( 9494912 )
1998
330
[Molecular genetic study of the PAX6 gene in aniridia patients]. ( 10025146 )
1998
331
Ten novel mutations found in Aniridia. ( 9792406 )
1998
332
Four novel and two previously reported mutations of the PAX6 gene in patients with aniridia. ( 9452088 )
1998
333
Polymerase chain reaction-based risk assessment for Wilms tumor in sporadic aniridia. ( 9625553 )
1998
334
A new treatment for photophobia in posttraumatic aniridia: a case report. ( 9836875 )
1998
335
Aniridia in a patient with tuberous sclerosis. ( 9422940 )
1997
336
Transscleral ciliary sulcus fixation of a posterior chamber lens in an eye with congenital aniridia. ( 9210000 )
1997
337
Selective defect of baroreflex blood pressure buffering with intact cardioinhibition in a woman with familial aniridia. ( 9409373 )
1997
338
Iris diaphragm implantation in post-traumatic aniridia and tractional retinal detachment. ( 9243222 )
1997
339
The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases. ( 9138149 )
1997
340
A LINE element is present at the site of a 300-kb deletion starting in intron 10 of the PAX6 gene in a case of familial aniridia. ( 8707297 )
1996
341
Comparison of protein kinase C subtype expression between normal and aniridic human ocular surfaces: implications for limbal stem cell dysfunction in aniridia. ( 8925665 )
1996
342
Aniridia in only one identical twin. ( 8796168 )
1996
343
A nude mouse Wilms' tumor line (KCMC-WT-1) derived from an aniridia patient with monoalleleic partial deletion of chromosome 11p. ( 8616775 )
1996
344
Genetics of aniridia and anterior segment dysgenesis. ( 8795384 )
1996
345
FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13). ( 8825052 )
1996
346
Identification of a novel PAX6 gene mutation in an aniridia patient. ( 8723696 )
1996
347
Recurrent keratopathy after penetrating keratoplasty for aniridia. ( 8862921 )
1996
348
Aniridia: recent achievements in paediatric practice. ( 8529675 )
1995
349
Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype. ( 7795596 )
1995
350
A new PAX6 mutation in familial aniridia. ( 7666404 )
1995
351
Ocular surface abnormalities in aniridia. ( 7661209 )
1995
352
Three novel aniridia mutations in the human PAX6 gene. ( 7550230 )
1995
353
Retinal detachment and giant retinal tears in aniridia. ( 7556730 )
1995
354
Screening for Wilms' tumour in patients with aniridia, Beckwith syndrome, or hemihypertrophy. ( 7700167 )
1995
355
Autosomal dominant keratitis: a possible aniridia variant. ( 7627897 )
1995
356
Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation). ( 8188215 )
1994
357
Black diaphragm intraocular lens in congenital aniridia. ( 7804103 )
1994
358
An unusual cystic lesion histologically similar to autosomal dominant polycystic kidney disease in a child with aniridia and del 11p13. ( 8072106 )
1994
359
Variability of iris defects in autosomal dominant aniridia. ( 8180874 )
1994
360
Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans. ( 7914031 )
1994
361
Black-diaphragm intraocular lens for correction of aniridia. ( 8196924 )
1994
362
Association and chance occurrence of aniridia and retinoblastoma. ( 7977618 )
1994
363
Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins. ( 7909985 )
1994
364
PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. ( 7951315 )
1994
365
Frosted-iris intraocular lens for traumatic aniridia with cataract. ( 7898870 )
1994
366
Molecular analysis of aniridia patients for deletions involving the Wilms' tumor gene. ( 7927324 )
1994
367
Nonsense mutation in the homeobox region of the aniridia gene. ( 7912607 )
1994
368
Lateral tarsorrhaphy and disposable soft contact lenses in aniridia patients after penetrating keratoplasty. ( 8336898 )
1993
369
Detection of a cryptic paracentric inversion within band 11p13 in familial aniridia by fluorescence in situ hybridization. ( 8478003 )
1993
370
Results of penetrating keratoplasty in aniridia. ( 8442490 )
1993
371
Gillespie syndrome, partial aniridia, cerebellar ataxia and mental retardation in mother and daughter. ( 7952360 )
1993
372
PAX6 mutations in aniridia. ( 8364574 )
1993
373
Genetics of aniridia: the Aniridia-Wilms' Tumor Association. ( 8392036 )
1993
374
Screening of children with hemihypertrophy, aniridia, and Beckwith-Wiedemann syndrome in patients with Wilms tumor: a report from the National Wilms Tumor Study. ( 8095320 )
1993
375
Membranous cataract in association with aniridia. ( 8295372 )
1993
376
Mutations in the PAX6 gene in patients with hereditary aniridia. ( 8111379 )
1993
377
Detection of submicroscopic chromosomal deletions in aniridia patients using fluorescence in-situ hybridization and a panel of cosmids covering the wt1 gene. ( 21573456 )
1993
378
The importance of DNA analysis in sporadic aniridia. ( 7908773 )
1993
379
Dinucleotide repeat polymorphism in the human aniridia (PAX6) gene. ( 8281171 )
1993
380
Aniridia ( 20301534 )
1993
381
PC IOLs in aniridia. ( 1513567 )
1992
382
Small eye (Sey): cloning and characterization of the murine homolog of the human aniridia gene. ( 1612585 )
1992
383
Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. ( 1345175 )
1992
384
Resolution of the two loci for autosomal dominant aniridia, AN1 and AN2, to a single locus on chromosome 11p13. ( 1505982 )
1992
385
Aniridia--Wilms' tumour association--a case with 11p 13-14.1 deletion and ventricular septal defect. ( 1338056 )
1992
386
The human PAX6 gene is mutated in two patients with aniridia. ( 1302030 )
1992
387
Aniridia-Wilms' tumour syndrome--a case report. ( 1338631 )
1992
388
Criteria to detect minimal expressivity within families with autosomal dominant aniridia. ( 1463039 )
1992
389
The results of glaucoma surgery in aniridia. ( 1562257 )
1992
390
Posterior chamber intraocular lenses after extracapsular cataract extraction in patients with aniridia. ( 1800932 )
1991
391
DNA diagnosis in a family with autosomal dominant aniridia. ( 1815167 )
1991
392
Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. ( 1684738 )
1991
393
Abnormalities of ERG in congenital aniridia. ( 1842369 )
1991
394
Aniridia in a thoroughbred horse. ( 9079113 )
1990
395
Iridial hypoplasia (aniridia) accompanied by limbic dermoids and cataracts in a group of related quarterhorses. ( 9079112 )
1990
396
11p13 deletion, Wilms' tumour, and aniridia: unusual genetic, non-ocular and ocular features of three cases. ( 2168204 )
1990
397
Syndrome of partial aniridia, cerebellar ataxia, and mental retardation--Gillespie syndrome. ( 2333873 )
1990
398
Aniridia and deafness: an inherited disorder. ( 2370470 )
1990
399
Location of the gene involving the small eye mutation on mouse chromosome 2 suggests homology with human aniridia 2 (AN2). ( 2347591 )
1990
400
A pathological study of nephroblastoma with congenital aniridia. ( 2168119 )
1990
401
A mouse model of the aniridia-Wilms tumor deletion syndrome. ( 2173141 )
1990
402
The aniridia-Wilms' tumour association: molecular and genetic analysis of chromosome deletions on the short arm of chromosome 11. ( 2542153 )
1989
403
Ambiguous genitalia, gonadoblastoma, aniridia and mental retardation with deletion of chromosome 11. ( 2810512 )
1989
404
Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia. ( 2817003 )
1989
405
Autosomal dominant aniridia linked to the chromosome 11p13 markers catalase and D11S151 in a large Dutch family. ( 2575483 )
1989
406
Aniridia, Wilms' tumor and human chromosome 11. ( 2560823 )
1989
407
Long-range restriction map around 11p13 aniridia locus. ( 2556802 )
1989
408
CpG islands surround a DNA segment located between translocation breakpoints associated with genitourinary dysplasia and aniridia. ( 2556343 )
1989
409
Rapid isolation of moderate and highly polymorphic DNA fragments mapping close to WT (Wilms' tumour) and AN2 (aniridia) on chromosome 11. ( 2564837 )
1989
410
Sporadic aniridia and Wilms' tumor: visual function evaluation of three cases. ( 2544487 )
1989
411
Aniridia, ectopia lentis, abnormal upper incisors and mental retardation--an autosomal recessive syndrome. ( 3266265 )
1988
412
Partial aniridia, cerebellar ataxia, and mental deficiency (Gillespie syndrome) in two brothers. ( 3189393 )
1988
413
Molecular analysis of the aniridia--Wilms' tumor syndrome. ( 2843322 )
1988
414
Two anonymous DNA segments distinguish the Wilms' tumor and aniridia loci. ( 2841760 )
1988
415
Family with aniridia, microcornea, and spontaneously reabsorbed cataract. ( 3355417 )
1988
416
Long range physical map of the Wilms' tumor-aniridia region on human chromosome 11. ( 2847871 )
1988
417
Aniridia with congenital ptosis and glaucoma: a family study. ( 3358595 )
1988
418
Regional localization of DNA probes on the short arm of chromosome 11 using aniridia-Wilms' tumor-associated deletions. ( 3028933 )
1987
419
High resolution G-banding analysis in aniridia. ( 2830569 )
1987
420
Aniridia/glaucoma and Wilms tumor in a sibship with renal tubular acidosis and sensory nerve deafness. ( 2835970 )
1987
421
G and R banding of 11p deletions in aniridia--Wilms' tumour. ( 3031298 )
1987
422
HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13. ( 3037545 )
1987
423
Specular microscopy in aniridia. ( 3581841 )
1987
424
Use of catalase polymorphisms in the study of sporadic aniridia. ( 3013756 )
1986
425
Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)]. ( 3754537 )
1986
426
The beta-subunit of follicle-stimulating hormone is deleted in patients with aniridia and Wilms' tumour, allowing a further definition of the WAGR locus. ( 3014343 )
1986
427
Aniridia, atypical iris defects, optic pit and the morning glory disc anomaly in a family. ( 3097598 )
1986
428
Wilms' tumor detection in patients with sporadic aniridia. Successful use of ultrasound. ( 3004194 )
1986
429
Aniridia and Wilms' tumor in a child constitutionally mosaic for 11p-;12q+: a new chromosomal change also present in Wilms' tumor cells of the blastema type. ( 3019867 )
1986
430
Aniridia, congenital glaucoma, and hydrocephalus in a male infant with ring chromosome 6. ( 3777023 )
1986
431
Bilateral aniridia with Marfan's syndrome and dental anomalies--a new association. ( 3586403 )
1986
432
Unusual variant of familial aniridia. ( 3091805 )
1986
433
Corneal melanocytes in aniridia. ( 3718299 )
1986
434
An alternative hypothesis for iris maldevelopment (aniridia). ( 3502629 )
1986
435
Median cleft of the upper lip in association with frontonasal meningocele, left aniridia and lenticular opacity. ( 3084825 )
1986
436
High-resolution studies in patients with aniridia-Wilms tumor association. ( 2991118 )
1985
437
Congenital aniridia in a pony. ( 3972691 )
1985
438
Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 17-1985. A 13-year-old boy with aniridia and proteinuria 11 years after nephrectomy for a Wilms' tumor. ( 2984565 )
1985
439
Aniridia - Wilm's tumor association (AWTA): a case report with detailed cytogenetic studies. ( 21164251 )
1985
440
Localization of the oncogene c-Ha-ras1 outside the aniridia-Wilms' tumor-associated deletion of chromosome 11(del 11p13) using somatic cell hybrids. ( 2981609 )
1985
441
Molecular analysis of chromosome 11 deletions in aniridia-Wilms tumor syndrome. ( 3001710 )
1985
442
Unsuccessful laser cyclophotocoagulation for glaucoma in aniridia. ( 4015477 )
1985
443
Molecular analysis of gene deletion in aniridia--Wilms tumor association. ( 2989154 )
1985
444
Blue light hazard and aniridia. ( 3978071 )
1985
445
Congenital corneal opacity (Peters' anomaly) combined with buphthalmos and aniridia. ( 3934622 )
1985
446
11p13 deletion and reduced RBC catalase in a patient with aniridia, glaucoma and bilateral Wilms' tumor. ( 2988163 )
1985
447
The E7-associated cell-surface antigen: a marker for the 11p13 chromosomal deletion associated with aniridia-Wilms tumor. ( 2996335 )
1985
448
Aniridia: enzyme studies in an 11p--chromosomal deletion. ( 6325367 )
1984
449
Del11p13/nephroblastoma without aniridia. ( 6092262 )
1984
450
Aniridia. A review. ( 6330922 )
1984
451
High-resolution studies in patients with aniridia-Wilms tumor association, Wilms tumor or related congenital abnormalities. ( 6088386 )
1984
452
Regional mapping of catalase and Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305----p1306. ( 6325323 )
1984
453
Wilms' tumor-aniridia association: segregation of affected chromosome in somatic cell hybrids, identification of cell surface antigen associated with deleted area, and regional mapping of c-Ha-ras-1 oncogene, insulin gene, and beta-globin gene. ( 6089356 )
1984
454
Corneal pathology and aniridia associated with partial trisomy 2q, due to a maternal (2;6) translocation. ( 6545387 )
1984
455
Gillespie's syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia). ( 6544390 )
1984
456
Familial aniridia. ( 6676322 )
1983
457
c-Ha-ras1 is not deleted in aniridia-Wilms' tumour association. ( 6312328 )
1983
458
Congenital aniridia: a histopathologic study of the anterior segment in children. ( 6631651 )
1983
459
Further chromosome studies on Wilms' tumor cells of patients without aniridia. ( 6311403 )
1983
460
The c-Ha-ras1, insulin and beta-globin loci map outside the deletion associated with aniridia-Wilms' tumour. ( 6312329 )
1983
461
Familial aniridia and translocation t(4;11)(q22;p13) without Wilms' tumor. ( 6301974 )
1983
462
The association of aniridia and Wilms' tumor: methods of surveillance and diagnosis. ( 6300626 )
1983
463
Management of secondary glaucoma in aniridia. ( 7166413 )
1982
464
Association of del(11)(p15.1p12), aniridia, catalase deficiency, and cardiomyopathy. ( 6127950 )
1982
465
Wilms tumor with aniridia/iris dysplasia and apparently normal chromosomes. ( 6278119 )
1982
466
Toward clinical microcytogenetics: the aniridia and the retinoblastoma stories. ( 6298811 )
1982
467
Corneal astigmatism associated with aniridia. ( 6980269 )
1982
468
Wilms's tumour and aniridia: clinical and cytogenetic features. ( 6289758 )
1982
469
A case of congenital aniridia and familial pheochromocytoma--with special reference to aniridia-Wilms' tumor syndrome. ( 6306309 )
1982
470
Catalase levels in patients with aniridia and/or Wilms' tumor: utility and limitations. ( 6273073 )
1981
471
Interstitial deletion of short arm of chromosome 11 limited to Wilms' tumor cells in a patient without aniridia. ( 6272980 )
1981
472
Aniridia and mental retardation with deletion of the short arm of chromosome 11. ( 7342404 )
1981
473
Ataxia with aniridia of Gillespie: a case report. ( 7192834 )
1981
474
Aniridia-Wilms tumor association. ( 6259310 )
1981
475
Aniridia, mental retardation and an unbalanced reciprocal translocation of chromosomes 8 and 11 with an interstitial deletion of 11p. ( 7215394 )
1981
476
Autosomal dominant aniridia in association with craniopharyngioma. ( 7234799 )
1981
477
Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13. ( 6114032 )
1981
478
Congenital aniridia. ( 7287117 )
1981
479
Aniridia-Wilms' tumor association and 11p interstitial deletion. ( 6260504 )
1981
480
The treatment of glaucoma secondary aniridia. ( 6261125 )
1981
481
Hallermann-Streiff syndrome associated with sclerocornea, aniridia, and a chromosomal abnormality. ( 6999913 )
1980
482
Neoplasms associated with hemihypertophy, Beckwith-Wiedemann syndrome and aniridia. ( 6249939 )
1980
483
Aniridia and interstitial deletion of the short arm of chromosome 11. ( 7442353 )
1980
484
Familial occurrence of the aniridia-Wilms tumor syndrome with deletion 11p13-14.1. ( 6246230 )
1980
485
A probable case of the homozygous condition of the aniridia gene. ( 6782213 )
1980
486
Variable expressivity in autosomal dominant aniridia by clinical, electrophysiologic, and angiographic criteria. ( 7369316 )
1980
487
Aplasia of the optic nerve with aniridia. ( 7235471 )
1980
488
Traumatic aniridia and aphakia with scleral buckling: a case report. ( 7426581 )
1980
489
Genetic heterogeneity of aniridia: negative linkage data. ( 6259463 )
1980
490
Anterior segment dysgenesis keratolenticular adhesion and aniridia. ( 6988567 )
1980
491
Regional assignment of catalase (CAT) gene to band 11p13. Association with the aniridia-Wilms' tumor-Gonadoblastoma (WAGR) complex. ( 6252821 )
1980
492
The role of genetic factors in the etiology of Wilms' tumor: two pairs of monozygous twins with congenital abnormalities (aniridia; hemihypertrophy) and discordance for Wilms' tumor. ( 216474 )
1979
493
Aniridia caused by a heritable chromosome 11 deletion. ( 230439 )
1979
494
Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13. ( 225131 )
1979
495
Corneal changes in aniridia. ( 375739 )
1979
496
Aniridia, cataracts, and Wilms tumor. ( 212955 )
1978
497
Aniridia associated with microcornea and subluxated lenses. ( 305786 )
1978
498
Aniridia, cataracts, and Wilms' tumor in monozygous twins. ( 209691 )
1978
499
Persistent pupillary membrane associated with aniridia. ( 677223 )
1978
500
Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion. ( 208044 )
1978
501
Aniridia-Wilms' tumour syndrome. ( 191773 )
1977
502
Aniridia, cataract and gonadoblastoma in a mentally retarded girl with deletion of chromosome II. A clinicopathological case report. ( 613291 )
1977
503
Familial aniridia with preserved ocular function. ( 868970 )
1977
504
Aniridia and congenital ptosis. ( 1122097 )
1975
505
Wilms' tumor in seven children with congenital aniridia. ( 163901 )
1975
506
Fundus oculi & uvea: management of complications accompanying aniridia. ( 1230219 )
1975
507
A familial syndrome of aniridia and absence of the patella. ( 1218204 )
1975
508
Progressive changes in the angle in congenital aniridia, with development of glaucoma. ( 4462243 )
1974
509
Progressive changes in the angle in congenital aniridia, with development of glaucoma. ( 4423758 )
1974
510
Dominantly inherited aniridia associated with mental retardation and other eye abnormalities. ( 4422267 )
1974
511
Traumatic aniridia. ( 4440713 )
1974
512
Computer-assisted analysis of chromosomal abnormalities: detection of a deletion in aniridia-Wilms' tumor syndrome. ( 4367262 )
1974
513
Letter: A syndrome of partial aniridia, unilateral renal agenesis, and mild psychomotor retardation in siblings. ( 4419812 )
1974
514
Frequent occurrence of hypoplastic optic disks in patients with aniridia. ( 4362165 )
1974
515
[The significance of atypical colobomata and defects of the iris for the diagnosis of the hereditary aniridia syndrome (author's transl)]. ( 4782857 )
1973
516
Bilateral aniridia, multiple webs and severe mental retardation in a 47,XXY-48,XXXY mosaic. ( 4730940 )
1973
517
Wilm's-aniridia syndrome with transient hypo-gamma-globulinaemia of infancy. ( 4361211 )
1973
518
Traumatic aniridia. ( 4743927 )
1973
519
Simultaneous occurrence of congenital aniridia, hamartoma, and Wilms' tumor. ( 5544158 )
1971
520
Scaphocephaly, bilateral aniridia, and bilateral anterior polar cataract with posterior dislocation of the lens. ( 5097399 )
1971
521
The syndrome of congenital cerebellar ataxia, aniridia and mental retardation. ( 5558750 )
1971
522
Wilm's tumor with aniridia. ( 4319059 )
1970
523
Nephroblastoma (Wilms tumor) and congenital aniridia. ( 4303885 )
1969
524
Wilms' tumor and congenital aniridia. ( 4309913 )
1969
525
Sporadic aniridia and Wilms' tumor. ( 4305152 )
1969
526
Remission of nystagmus following fitting contact lenses to an infant with aniridia. ( 5663371 )
1968
527
Aniridia and wilms's tumour (nephroblastoma). ( 4301457 )
1968
528
Wilms' tumor and congenital aniridia. ( 4300348 )
1968
529
The association of aniridia, Wilms' tumor, and genital abnormalities. ( 4287042 )
1966
530
The association of aniridia, Wilms's tumor, and genital abnormalities. ( 4285715 )
1965
531
ANIRIDIA, CEREBELLAR ATAXIA, AND OLIGOPHRENIA IN SIBLINGS. ( 14246186 )
1965
532
CONGENITAL THYROTOXICOSIS WITH HEPATOSPLENOMEGALY AND THROMBOCYTOPENIA, ASSOCIATED WITH ANIRIDIA AND DISLOCATED LENSES. ( 14291254 )
1965
533
Visual evoked potentials in subjects with congenital aniridia. ( 4158071 )
1965
534
ASSOCIATION OF WILMS'S TUMOR WITH ANIRIDIA, HEMIHYPERTROPHY AND OTHER CONGENITAL MALFORMATIONS. ( 14114111 )
1964
535
CAN ANIRIDIA BE INHERITED RECESSIVELY? ( 14099423 )
1963
536
Aniridia with microcornea. Report of a case. ( 13947900 )
1962
537
Aniridia with retinal lipid deposits. ( 14451722 )
1962
538
A family study of aniridia. ( 13709149 )
1961
539
Congenital Aniridia. ( 17948455 )
1960
540
Aniridia and related iris defects; a report of twelve cases with bilateral cataract extraction and resulting good vision in one. ( 13532090 )
1958
541
Congenital aniridia. ( 13238554 )
1955
542
A pedigree of aniridia with a discussion of germinal mosaicism in man. ( 14361391 )
1955
543
Aniridia and essential atrophy of the iris. ( 13380975 )
1955
544
Goniotomy for glaucoma associated with aniridia. ( 12996142 )
1953
545
The surgical treatment of glaucoma complicating congenital aniridia. ( 13065371 )
1953
546
The surgical treatment of glaucoma complicating congenital aniridia. ( 13102552 )
1952
547
Congenital aniridia; report of a case. ( 14905520 )
1951
548
Aniridia with extopia lentis and secondary glaucoma; genetic, pathologic, and surgical considerations. ( 18132872 )
1949
549
Bilateral aniridia, glaucoma and lens opacities in a woman. ( 18935013 )
1948
550
Aniridia congenita: report of five cases; genealogy; possibilities of treatment. ( 18900859 )
1948
551
Aniridia congenita. ( 20260313 )
1947
552
A CONSIDERATION OF ANIRIDIA, WITH A PEDIGREE. ( 18170387 )
1947
553
Aniridia or irideremia. ( 20276984 )
1946
554
Two Brothers, members of a family with "lobster-claw" (split-hand and split-foot deformity), one showing the Skeletal Deformity and the other Aniridia. ( 19990206 )
1935
555
A FAMILY WITH ANIRIDIA. ( 18168661 )
1927
556
Congenital Aniridia. ( 16692741 )
1926
557
Foreign body in fundus - extraction by magnet - complete post-operative aniridia - recovery. ( 16692123 )
1907

Variations for Aniridia

UniProtKB/Swiss-Prot genetic disease variations for Aniridia:

71 (showing 28, show less)
id Symbol AA change Variation ID SNP ID
1 PAX6 p.Asn17Ser VAR_003808
2 PAX6 p.Gly18Trp VAR_003809
3 PAX6 p.Ile29Val VAR_003811
4 PAX6 p.Arg44Gln VAR_003812
5 PAX6 p.Ile87Arg VAR_003813
6 PAX6 p.Gln178His VAR_003815
7 PAX6 p.Arg208Trp VAR_003816 rs757259413
8 PAX6 p.Ile29Ser VAR_008694
9 PAX6 p.Ala33Pro VAR_008695
10 PAX6 p.Ile42Ser VAR_008697
11 PAX6 p.Ser43Pro VAR_008698
12 PAX6 p.Val53Leu VAR_008699
13 PAX6 p.Thr63Pro VAR_008701
14 PAX6 p.Ala79Glu VAR_008703
15 PAX6 p.Ser119Arg VAR_008704 rs121907928
16 PAX6 p.Val126Asp VAR_008705 rs121907919
17 PAX6 p.Arg208Gln VAR_008706 rs749244084
18 PAX6 p.Ser353Ala VAR_008707 rs373661718
19 PAX6 p.Gln422Arg VAR_008708 rs780356070
20 PAX6 p.Pro375Gln VAR_015066 rs200015827
21 PAX6 p.Arg19Pro VAR_047860
22 PAX6 p.Leu46Arg VAR_047861
23 PAX6 p.Cys52Arg VAR_047862
24 PAX6 p.Ile56Thr VAR_047863
25 PAX6 p.Gly73Asp VAR_047864
26 PAX6 p.Ile87Lys VAR_047865
27 PAX6 p.Arg242Thr VAR_047866 rs121907927
28 PAX6 p.Gly395Arg VAR_067698

ClinVar genetic disease variations for Aniridia:

6 (showing 82, show less)
id Gene Variation Type Significance SNP ID Assembly Location
1 PAX6 PAX6, 2-BP INS insertion Pathogenic
2 PAX6 PAX6, EXON G DEL deletion Pathogenic
3 PAX6 NM_000280.4(PAX6): c.406C> T (p.Gln136Ter) single nucleotide variant Pathogenic rs121907912 GRCh37 Chromosome 11, 31822356: 31822356
4 PAX6 NM_000280.4(PAX6): c.76C> G (p.Arg26Gly) single nucleotide variant Pathogenic rs121907913 GRCh37 Chromosome 11, 31824317: 31824317
5 PAX6 NM_000280.4(PAX6): c.307C> T (p.Arg103Ter) single nucleotide variant Pathogenic rs121907914 GRCh37 Chromosome 11, 31823159: 31823159
6 PAX6 NG_008679.1: g.32252G> C single nucleotide variant Pathogenic rs1131692318 GRCh38 Chromosome 11, 31790710: 31790860
7 PAX6 NM_000280.4(PAX6): c.607C> T (p.Arg203Ter) single nucleotide variant Pathogenic rs121907916 GRCh37 Chromosome 11, 31816253: 31816253
8 PAX6 NM_000280.4(PAX6): c.718C> T (p.Arg240Ter) single nucleotide variant Pathogenic rs121907917 GRCh37 Chromosome 11, 31815627: 31815627
9 PAX6 NM_000280.4(PAX6): c.1033-2A> G single nucleotide variant Pathogenic rs794726661 GRCh38 Chromosome 11, 31790862: 31790862
10 PAX6 NM_000280.4(PAX6): c.1268A> T (p.Ter423Leu) single nucleotide variant Pathogenic rs121907922 GRCh37 Chromosome 11, 31811483: 31811483
11 PAX6 NM_000280.4(PAX6): c.725G> C (p.Arg242Thr) single nucleotide variant Pathogenic rs121907927 GRCh37 Chromosome 11, 31815620: 31815620
12 PAX6 NM_000280.4(PAX6): c.357C> A (p.Ser119Arg) single nucleotide variant Pathogenic rs121907928 GRCh37 Chromosome 11, 31823109: 31823109
13 PAX6 NM_000280.4(PAX6): c.-129+2T> A single nucleotide variant Pathogenic rs878852979 GRCh38 Chromosome 11, 31810826: 31810826
14 PAX6 NM_000280.4(PAX6): c.771G> A (p.Trp257Ter) single nucleotide variant Pathogenic rs121907929 GRCh37 Chromosome 11, 31815345: 31815345
15 PAX6 NM_000280.4(PAX6): c.112C> T (p.Arg38Trp) single nucleotide variant Pathogenic rs397514640 GRCh37 Chromosome 11, 31824281: 31824281
16 PAX6 NM_000280.4(PAX6): c.357+1G> A single nucleotide variant Pathogenic rs398123295 GRCh37 Chromosome 11, 31823108: 31823108
17 PAX6 NM_000280.4(PAX6): c.46delG (p.Val16Serfs) deletion Pathogenic rs398123296 GRCh37 Chromosome 11, 31824347: 31824347
18 ELP4 NM_019040.4(ELP4): c.1143+14176C> A single nucleotide variant Pathogenic rs606231388 GRCh38 Chromosome 11, 31664397: 31664397
19 PAX6 NM_000280.4(PAX6): c.894_895insCAGTGTCTACCAACCA (p.Ile299Glnfs) insertion Pathogenic rs797044627 GRCh37 Chromosome 11, 31815221: 31815222
20 PAX6 NM_000280.4(PAX6): c.1242_1243insATATG (p.Ser415Ilefs) insertion Pathogenic rs797044642 GRCh37 Chromosome 11, 31811508: 31811509
21 covers 19 genes, none of which curated to show dosage sensitivity NC_000004.12: g.110853395_114363395del3510001 deletion Pathogenic GRCh37 Chromosome 4, 111774551: 115284551
22 FOXC1; GMDS NC_000006.10: g.1543591_1675085del131495 deletion Pathogenic NCBI36 Chromosome 6, 1543591: 1675085
23 ELP4; PAX6 NC_000011.10: g.31720147_31816290del96144 deletion Pathogenic NCBI36 Chromosome 11, 31698271: 31794414
24 DCDC1; DNAJC24; ELP4; IMMP1L NC_000011.8: g.30874642_31654833del780192 deletion Pathogenic NCBI36 Chromosome 11, 30874642: 31654833
25 DCDC1; DNAJC24; ELP4; IMMP1L NC_000011.8: g.30967000_31704000del737001 deletion Pathogenic NCBI36 Chromosome 11, 30967000: 31704000
26 DCDC1; DNAJC24; ELP4; IMMP1L NC_000011.8: g.31108579_31649842del541264 deletion Pathogenic NCBI36 Chromosome 11, 31108579: 31649842
27 DCDC1; DNAJC24; ELP4; IMMP1L; PAX6 NC_000011.8: g.31199000_31849000del650001 deletion Pathogenic GRCh37 Chromosome 11, 31242424: 31892424
28 DCDC1; DNAJC24; ELP4; IMMP1L; PAX6 NC_000011.8: g.31199000_31914000del715001 deletion Pathogenic GRCh37 Chromosome 11, 31242424: 31957424
29 DCDC1; DNAJC24; ELP4; IMMP1L NC_000011.8: g.31234395_31751815del517421 deletion Pathogenic NCBI36 Chromosome 11, 31234395: 31751815
30 DNAJC24; ELP4; IMMP1L NC_000011.8: g.31379000_31708000del329001 deletion Pathogenic NCBI36 Chromosome 11, 31379000: 31708000
31 PAX6 NC_000011.8: g.31779000_31933000del154001 deletion Pathogenic NCBI36 Chromosome 11, 31779000: 31933000
32 PAX6 NM_000280.4(PAX6): c.781C> T (p.Arg261Ter) single nucleotide variant Pathogenic rs886041222 GRCh37 Chromosome 11, 31815335: 31815335