AIED
MCID: ALN001
MIFTS: 49

Aland Island Eye Disease (AIED)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Aland Island Eye Disease

MalaCards integrated aliases for Aland Island Eye Disease:

Name: Aland Island Eye Disease 56 12 52 73 36 13 43 15 39
Forsius-Eriksson Type Ocular Albinism 56 12 58 73
Aied 56 52 58 73
Forsius-Eriksson Syndrome 12 58
Forsius Eriksson Type Ocular Albinism 52
Aland Islands Eye Disease 58
Aaland Island Eye Disease 73
Ocular Albinism, Type Ii 71
Vision Disorders 43

Characteristics:

Orphanet epidemiological data:

58
aland islands eye disease
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
x-linked


HPO:

31
aland island eye disease:
Inheritance x-linked inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0050630
OMIM 56 300600
KEGG 36 H00690
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 72 C0268505
Orphanet 58 ORPHA178333
MedGen 41 C0268505
UMLS 71 C0268505

Summaries for Aland Island Eye Disease

OMIM : 56 Aland Island eye disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, protan color vision defect (303900), progressive myopia, and defective dark adaptation. Although AIED has been referred to as a form of albinism, there is no misrouting of the optic nerves, which excludes it from the formal diagnosis of classic albinism (King et al., 2001). (300600)

MalaCards based summary : Aland Island Eye Disease, also known as forsius-eriksson type ocular albinism, is related to achromatopsia and eye disease. An important gene associated with Aland Island Eye Disease is CACNA1F (Calcium Voltage-Gated Channel Subunit Alpha1 F). The drugs Dexamethasone and Dexamethasone acetate have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and liver, and related phenotypes are nystagmus and abnormal electroretinogram

Disease Ontology : 12 An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has material basis in mutation in the CACNA1F gene.

KEGG : 36 Aland Island eye disease (AIED) is an X-linked form of ocular hypopigmentation. Affected males demonstrate nystagmus, decreased visual acuity, myopia, astigmatism, achromatopsia, and fundus hypopigmentation.

UniProtKB/Swiss-Prot : 73 Aaland island eye disease: A retinal disease characterized by a combination of fundus hypopigmentation, decreased visual acuity due to foveal hypoplasia, nystagmus, astigmatism, protan color vision defect, myopia, and defective dark adaptation. Except for progression of axial myopia, the disease can be considered to be a stationary condition. Electroretinography reveals abnormalities in both photopic and scotopic functions.

Related Diseases for Aland Island Eye Disease

Diseases related to Aland Island Eye Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 464)
# Related Disease Score Top Affiliating Genes
1 achromatopsia 31.8 RPE65 NYX CACNA1F
2 eye disease 30.9 RPE65 GK DMD CACNA1F
3 night blindness 30.9 RPE65 NYX CACNA1F
4 glycerol kinase deficiency 30.8 GK DMD
5 adrenal hypoplasia, congenital 30.7 GK DMD
6 x-linked congenital stationary night blindness 30.7 NYX CACNA1F
7 night blindness, congenital stationary, type 2a 30.6 NYX CACNA1F
8 night blindness, congenital stationary, type 1e 30.6 NYX CACNA1F
9 congenital stationary night blindness 30.5 RPE65 PRICKLE3 NYX CACNA1F
10 ocular albinism 30.1 LRMDA GPR143 GK CACNA1F
11 retinal disease 29.9 RPE65 NYX CACNA1F
12 pathologic nystagmus 29.7 RPE65 NYX LRMDA GPR143 CACNA1F
13 androgen insensitivity syndrome 12.3
14 amelogenesis imperfecta 12.1
15 autoimmune inner ear disease 12.0
16 scoliosis, isolated 1 11.8
17 amelogenesis imperfecta, type ib 11.6
18 hereditary amyloidosis 11.5
19 hidradenitis suppurativa 11.5
20 aortic valve insufficiency 11.5
21 x-linked cerebral adrenoleukodystrophy 11.4
22 pediatric arterial ischemic stroke 11.3
23 jalili syndrome 11.3
24 salt and pepper developmental regression syndrome 11.2
25 amelogenesis imperfecta, type ie 11.1
26 amelogenesis imperfecta, type ij 11.1
27 scoliosis 10.8
28 idiopathic scoliosis 10.7
29 blue cone monochromacy 10.7
30 eales disease 10.7
31 myopia 10.5
32 coronary heart disease 1 10.5
33 yemenite deaf-blind hypopigmentation syndrome 10.5
34 astigmatism 10.4
35 albinism 10.4
36 atherosclerosis susceptibility 10.4
37 huntington disease-like 3 10.4
38 amyloidosis 10.4
39 muscular dystrophy 10.4
40 nr0b1-related adrenal hypoplasia congenita 10.4 GK DMD
41 huntington disease-like 2 10.4
42 coronary artery anomaly 10.4
43 chromosome xp21 deletion syndrome 10.4 GK DMD
44 hyperlipoproteinemia, type iii 10.3
45 arteries, anomalies of 10.3
46 adenocarcinoma in situ 10.3
47 avian influenza 10.3
48 hypertriglyceridemia, familial 10.3
49 muscular dystrophy, duchenne type 10.3
50 night blindness, congenital stationary, type 1c 10.3 NYX CACNA1F

Graphical network of the top 20 diseases related to Aland Island Eye Disease:



Diseases related to Aland Island Eye Disease

Symptoms & Phenotypes for Aland Island Eye Disease

Human phenotypes related to Aland Island Eye Disease:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 abnormal electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0000512
3 myopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000545
4 reduced visual acuity 58 31 hallmark (90%) Very frequent (99-80%) HP:0007663
5 hypopigmentation of the fundus 58 31 hallmark (90%) Very frequent (99-80%) HP:0007894
6 astigmatism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000483
7 hypoplasia of the fovea 58 31 hallmark (90%) Very frequent (99-80%) HP:0007750
8 difficulty adjusting from light to dark 58 31 hallmark (90%) Very frequent (99-80%) HP:0030513
9 color vision defect 31 hallmark (90%) HP:0000551
10 abnormality of metabolism/homeostasis 31 HP:0001939
11 abnormality of color vision 58 Very frequent (99-80%)
12 severely reduced visual acuity 31 HP:0001141
13 albinism 31 HP:0001022

Symptoms via clinical synopsis from OMIM:

56
Eyes:
nystagmus
myopia
astigmatism
foveal hypoplasia
fundus albinism
more
Lab:
no macromelanosomes on em

Misc:
slightly decreased color discrimination, and nystagmus by emg in carrier females

Clinical features from OMIM:

300600

Drugs & Therapeutics for Aland Island Eye Disease

Drugs for Aland Island Eye Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 137)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
2
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
3
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
4
Levonorgestrel Approved, Investigational Phase 4 797-63-7, 17489-40-6 13109
5
Polyestradiol phosphate Approved Phase 4 28014-46-2
6
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
7
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
8
Cinacalcet Approved Phase 4 226256-56-0 156419
9
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
10
Homatropine Approved Phase 4 87-00-3
11
Moxifloxacin Approved, Investigational Phase 4 151096-09-2, 354812-41-2 152946
12
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
13 Immunosuppressive Agents Phase 4
14 Antiemetics Phase 4
15 Gastrointestinal Agents Phase 4
16 Hormone Antagonists Phase 4
17 Autonomic Agents Phase 4
18 Anti-Inflammatory Agents Phase 4
19 BB 1101 Phase 4
20 Antineoplastic Agents, Hormonal Phase 4
21 glucocorticoids Phase 4
22 Hormones Phase 4
23 Contraceptives, Oral Phase 4
24 Estradiol 17 beta-cypionate Phase 4
25 Ethinyl estradiol, levonorgestrel drug combination Phase 4
26 Estradiol 3-benzoate Phase 4
27 Contraceptive Agents Phase 4
28 HIV Protease Inhibitors Phase 4
29
protease inhibitors Phase 4
30 Betamethasone benzoate Phase 4
31 Betamethasone sodium phosphate Phase 4
32 Betamethasone Valerate Phase 4 2152-44-5
33 Betamethasone-17,21-dipropionate Phase 4
34 Calcium, Dietary Phase 4
35 Calcimimetic Agents Phase 4
36 Respiratory System Agents Phase 4
37 Dexamethasone 21-phosphate Phase 4
38 Anti-Asthmatic Agents Phase 4
39 Antibiotics, Antitubercular Phase 4
40 Norgestimate, ethinyl estradiol drug combination Phase 4
41 Anti-Bacterial Agents Phase 4
42 Anti-Infective Agents Phase 4
43 Topoisomerase Inhibitors Phase 4
44 Parasympatholytics Phase 4
45
Histidine Investigational, Nutraceutical Phase 4 71-00-1 6274
46
Verteporfin Approved, Investigational Phase 3 129497-78-5
47
Bevacizumab Approved, Investigational Phase 3 216974-75-3
48
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
49
leucovorin Approved Phase 3 58-05-9 6006 143
50
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907

Interventional clinical trials:

(show top 50) (show all 150)
# Name Status NCT ID Phase Drugs
1 An Open-label, Multicenter, Phase IV Study of the Efficacy and Safety of Ranibizumab 0.5mg in Diabetic Patients Presenting a Visual Impairment Due to Macular Edema in Current Medical Practice Completed NCT01315275 Phase 4 Ranibizumab
2 Evaluation of a Parathyroid Hormone Suppression Test With Cinacalcet. Comparison: 1- With the Results of the Intravenous Calcium Suppression Test in Healthy Controls; 2- Between Healthy Controls and Patients With Primary Hyperparathyroidism. Completed NCT01103206 Phase 4 cinacalcet;cinacalcet dose 1;cinacalcet dose 2
3 Oral Contraception and Ovarian Suppression in Women With Different Weights Completed NCT00827632 Phase 4 Low dose formulation;High dose formulation
4 An Open-label, Multi-center, 6-month Extension Study Comparing the Long-term Efficacy and Safety of Lucentis (Ranibizumab) Intravitreal Injections Versus Ozurdex (Dexamethasone) Intravitreal Implant in Patients With Visual Impairment Due to Macular Edema Following Branch Retinal Vein Occlusion (BRVO) or Central Retinal Vein Occlusion (CRVO) Who Have Completed the Respective Core Study (CRFB002EDE17 or CRFB002EDE18) Completed NCT01580020 Phase 4 Dexamethasone
5 Intraoperative Dexamethasone Implant (Ozurdex®) Improves Outcome of Cataract Surgery in Patients With Diabetic Macular Edema Completed NCT01546402 Phase 4 Dexamethasone Drug delivery system (Ozurdex)
6 Proof of Concept Study of the Effectiveness of Ozurdex in Lieu of Oral Corticosteroids for the Control of Active Intermediate and Posterior Uveitis Requiring Immunosuppressive Drug Therapy Completed NCT02049476 Phase 4 Dexamethasone pellet
7 A Randomized, Single-blinded, Multicenter, Phase IV Study to Compare Systemic VEGF Protein Dynamics Following Monthly Intravitreal Injections of 0.5 mg Ranibizumab Versus 2 mg Aflibercept Until Study Week 12 in Patients With Visual Impairment Due to Diabetic Macular Edema Withdrawn NCT02258009 Phase 4 Ranibizumab;Aflibercept
8 A 24-week, Randomized, Single-masked, Multicenter, Phase IV Study to Compare sysTemic VEGF Levels Following Monthly Intravitreal Injections of 0.5 mg Ranibizumab Versus 2 mg Aflibercept Until Week 24 in Patients With Visual Impairment DuE to Diabetic Macular Edema (TIDE DME). Withdrawn NCT02878681 Phase 4 Ranibizumab;Aflibercept
9 Vision In Preschoolers Study (VIP Study) Unknown status NCT00038753 Phase 3
10 Convergence Insufficiency Treatment Trial (CITT) Unknown status NCT00338611 Phase 3
11 A 12-month, Randomized, Double-masked, Multicenter, Laser-controlled Phase III Study Assessing the Efficacy and Safety of 0.5 mg Ranibizumab Dosed PRN in Subjects With Visual Impairment Due to Diabetic Macular Edema in Chinese Patients Completed NCT02259088 Phase 3 Ranibizumab (RFB002);Sham injection
12 A 6-month Multicenter, Randomized, Double-masked Phase IIIb-study Comparing the Efficacy and Safety of Ranibizumab Intravitreal Injections Versus Dexamethasone Intravitreal Implant in Patients With Visual Impairment Due to Macular Edema Following Central Retinal Vein Occlusion (CRVO) Completed NCT01396083 Phase 3 Ranibizumab;Dexamethasone implant and sham injections
13 A Randomized, Double-masked, Multicenter, Laser-controlled Phase III Study Assessing the Efficacy and Safety of Ranibizumab (Intravitreal Injections) as Adjunctive and Mono-therapy in Patients With Visual Impairment Due to Diabetic Macular Edema Completed NCT00687804 Phase 3 Ranibizumab;Sham to ranibizumab
14 A 2 Year Randomized, Single-masked, Multicenter, Controlled Phase IIIb Trial Assessing the Efficacy and Safety of 0.5 mg Ranibizumab in Two "Treat and Extend" Treatment Algorithms vs. 0.5 mg Ranibizumab As Needed in Patients With Macular Edema and Visual Impairment Secondary to Diabetes Mellitus Completed NCT01171976 Phase 3 Ranibizumab
15 A 12 Month, Phase III, Randomized, Double-masked, Multicenter, Active-controlled Study to Evaluate the Efficacy and Safety of Two Different Dosing Regimens of 0.5 mg Ranibizumab vs. Verteporfin PDT in Patients With Visual Impairment Due to Choroidal Neovascularization Secondary to Pathologic Myopia Completed NCT01217944 Phase 3 Ranibizumab;Verteporfin PDT;Sham Ranibizumab;Sham verteporfin PDT
16 A 12-month, Open-label, Interventional, Multicentre Study to Investigate the Current Criteria Driving Re-treatment With Ranibizumab Upon Relapse in Patients With Visual Impairment Due to Choroidal Neovascularization Secondary to Pathologic Myopia Completed NCT02034006 Phase 3 Ranibizumab
17 Modelling and Evaluation of a Community-oriented mHealth-based Screening and Promotional Programme for Improving Eye Health in Iran Completed NCT03922347 Phase 3
18 A 6-month Multicenter, Randomized, Double-masked Phase IIIb-study Comparing the Efficacy and Safety of Ranibizumab Intravitreal Injections Versus Dexamethasone Intravitreal Implant in Patients With Visual Impairment Due to Macular Edema Following Branch Retinal Vein Occlusion (BRVO) Completed NCT01396057 Phase 3 Ranibizumab
19 A Randomized, Double-masked, Multicenter, Laser Controlled Phase III Study Assessing the Efficacy and Safety of Ranibizumab (Intravitreal Injections) as Adjunctive and Monotherapy in Patients With Visual Impairment Due to Diabetic Macular Edema Completed NCT00989989 Phase 3 Ranibizumab;Sham ranibizumab
20 A 24-month, Phase IIIb, Open-label, Single Arm, Multicenter Study Assessing the Efficacy and Safety of an Individualized, Stabilization-criteria-driven PRN Dosing Regimen With 0.5-mg Ranibizumab Intravitreal Injections Applied as Monotherapy in Patients With Visual Impairment Due to Macular Edema Secondary to Central Retinal Completed NCT01535261 Phase 3 Ranibizumab 0.5 mg/0.05 ml
21 A 12-month, Phase III, Randomized, Double-masked, Multicenter, Active-controlled Study to Evaluate the Efficacy and Safety of Two Individualized Regimens of 0.5mg Ranibizumab vs. Verteporfin PDT in Patients With Visual Impairment Due to Choroidal Neovascularization Secondary to Pathologic Myopia Completed NCT01922102 Phase 3 Ranibizumab 0.5mg;Ranibizumab 0.5 mg;Verteporfin PDT
22 A One-Year, Randomized, Double-Masked, Multicenter, Phase III, Two-Arm Study Assessing the Efficacy and Safety of Brolucizumab Versus Aflibercept in Adult Chinese Patients With Visual Impairment Due to Diabetic Macular Edema Recruiting NCT04058067 Phase 3 Brolucizumab;Aflibercept
23 A Two-year, Three-arm, Randomized, Double-masked, Multicenter, Phase III Study Assessing the Efficacy and Safety of Brolucizumab Versus Aflibercept in Adult Patients With Visual Impairment Due to Diabetic Macular Edema Recruiting NCT03481634 Phase 3 Brolucizumab;Aflibercept
24 A 12-Month, 2-Arm, Randomized, Double-Masked, Multicenter Phase III Study Assessing the Efficacy and Safety of Brolucizumab vs. Aflibercept in Patients With Visual Impairment Due to Diabetic Macular Edema (KINGFISHER) Recruiting NCT03917472 Phase 3 Brolucizumab;Aflibercept
25 An Eighteen-Month, Two-Arm, Randomized, Double Masked, Multicenter, Phase III Study Assessing the Efficacy and Safety of Brolucizumab Versus Aflibercept in Adult Patients With Visual Impairment Due to Macular Edema Secondary to Central Retinal Vein Occlusion Recruiting NCT03810313 Phase 3 Brolucizumab 6 mg;Aflibercept 2 mg
26 Double-masked, Randomized, Controlled, Multiple-dose Study to Evaluate Efficacy, Safety, Tolerability and Syst. Exposure of QR-110 in Leber's Congenital Amaurosis (LCA) Due to c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene Recruiting NCT03913143 Phase 2, Phase 3 QR-110
27 A Two-Year, Two-Arm, Randomized, Double Masked, Multicenter, Phase III Study Assessing the Efficacy and Safety of Brolucizumab Versus Aflibercept in Adult Patients With Visual Impairment Due to Diabetic Macular Edema Active, not recruiting NCT03481660 Phase 3 Brolucizumab;Aflibercept
28 A Comparative Double Masked, Two-Arm, Randomized, Multicenter, Phase IIIb Study Analyzing the Efficacy and Safety of Brolucizumab Versus Aflibercept in Patients With Visual Impairment Due to Diabetic Macular Edema (BUZZARD) Not yet recruiting NCT04079231 Phase 3 Brolucizumab;Aflibercept
29 An Eighteen-Month, Two-Arm, Randomized, Double Masked, Multicenter, Phase III Study Assessing the Efficacy and Safety of Brolucizumab Versus Aflibercept in Adult Patients With Visual Impairment Due to Macular Edema Secondary to Branch Retinal Vein Occlusion Not yet recruiting NCT03802630 Phase 3 Brolucizumab 6 mg;Aflibercept 2 mg
30 Autoimmunity in Inner Ear Disease Terminated NCT00000361 Phase 3 Corticosteroids;Methotrexate
31 A 12-month, Two-armed, Randomized, Double-masked, Multicenter, Phase IIIb Study Assessing the Efficacy and Safety of Laser Photocoagulation as Adjunctive to Ranibizumab Intravitreal Injections vs. Laser Photocoagulation Monotherapy in Patients With Visual Impairment Due to Diabetic Macular Edema Followed by a 12 Month Follow up Period Terminated NCT01131585 Phase 3 Sham injections;Ranibizumab 0.5 mg
32 A Phase I/II Open-label Study of the Effects of Anakinra in Corticosteroid-resistant Subjects With Autoimmune Inner Ear Disease Completed NCT01267994 Phase 1, Phase 2 Anakinra
33 A Randomized, Open Label, Multicenter, Laser-controlled Phase II Study Assessing the Efficacy and Safety of Ranibizumab (Intravitreal Injections) vs. Laser Treatment in Patients With Visual Impairment Due to Diabetic Macular Edema Completed NCT00901186 Phase 2 RFB002
34 Evaluation of Pharmacodynamic Effects on Ovulation Suppression and Cycle Control of Three Agile Contraceptive Patches Containing Different Doses of Ethinyl Estradiol(EE)During Three Cycles of Administration Completed NCT01250210 Phase 2 levonorgestrel and ethinyl estradiol
35 Study and Treatment of Visual Dysfunction and Motor Fatigue in Multiple Sclerosis Completed NCT02391961 Phase 2 Dalfampridine;Placebo
36 A Phase II Placebo Controlled Study of the Effects of Anakinra (Kineret) in Subjects With Autoimmune Inner Ear Disease Disease (AIED) Recruiting NCT03587701 Phase 2 Anakinra 100Mg/0.67Ml Inj Syringe (Period 1);Placebo injection (Period 1);Anakinra 100Mg/0.67Ml Inj Syringe (Period 2);Placebo injection (Period 2)
37 A Phase 2, Prospective, Randomized, Double-masked, Active Comparator-controlled, Multi-center Study to Investigate the Efficacy and Safety of Repeated Intravitreal Administration of KSI-301 in Subjects With Neovascular (Wet) Age-related Macular Degeneration. Recruiting NCT04049266 Phase 2 KSI-301;Aflibercept
38 Safety and Efficacy of a Unilateral Subretinal Administration of HORA-PDE6B in Patients With Retinitis Pigmentosa Harbouring Mutations in the PDE6B Gene Leading to a Defect in PDE6ß Expression Recruiting NCT03328130 Phase 1, Phase 2
39 A Multiple-Site, Phase 1/2, Safety and Efficacy Trial of AGTC 402, a Recombinant Adeno-associated Virus Vector Expressing CNGA3, in Patients With Congenital Achromatopsia Caused by Mutations in the CNGA3 Gene Recruiting NCT02935517 Phase 1, Phase 2
40 Open-Label, Single Ascending Dose Study to Evaluate the Safety, Tolerability, and Efficacy of AGN-151587 (EDIT-101) in Adult and Pediatric Participants With Leber Congenital Amaurosis Type 10 (LCA10), With Centrosomal Protein 290 (CEP290)-Related Retinal Degeneration Caused by a Compound Heterozygous or Homozygous Mutation Involving c.2991+1655A>G in Intron 26 (IVS26) of the CEP290 Gene ("LCA10-IVS26") Recruiting NCT03872479 Phase 1, Phase 2 AGN-151587
41 A First-in-Human Study to Evaluate the Safety and Tolerability of QR-421a in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene Recruiting NCT03780257 Phase 1, Phase 2 QR-421a
42 A Prospective First-In-Human Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa (adRP) Due to the P23H Mutation in the RHO Gene Recruiting NCT04123626 Phase 1, Phase 2 QR-1123
43 An Open-Label, Extension Study to Evaluate the Safety, Tolerability, Efficacy and Pharmacokinetics of QR-110 in Subjects With Leber's Congenital Amaurosis (LCA) Due to the c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene Recruiting NCT03913130 Phase 1, Phase 2 QR-110
44 Safety and Efficacy of Intratympanically Delivered Golimumab for Stabilization of Hearing in Patients With Autoimmune Inner Ear Disease: An Open-label Proof-of-concept Clinical Trial Terminated NCT01526174 Phase 1, Phase 2 Golimumab
45 Treatment of Infantile and Juvenile Patients With Bardet-Biedl-Syndrome With Metformin. Evaluation of a Visual Improvement as a Side Effect of the Pediatric Treatment of Adipositas - a Prospective Pilot Study Without Control Withdrawn NCT03490019 Phase 2 Metformin
46 Imaging of Conjunctival Microvasculature During Contact Lens Wear Completed NCT02540122 Phase 1
47 Evaluation of the Feasibility, Safety and Efficacy of Venous Stenting for Internal Jugular Vein Stenosis Not yet recruiting NCT03373292 Phase 1
48 The Correlation for Improvement of Visual Acuity and QOL After Ranibizmab Treatment for Age-Related Macular Degeneration Patients Unknown status NCT02158624 Intravitreal Lucentis 0.5mg
49 Measuring of Neuro-visual Functionality With New Human Visual System Device Ocusweep Unknown status NCT02258113
50 Phase 1 Evaluate the Visual Quality Change of Eyes Implanted With Multifocal Intraocular Lens and Monofocal Lenses; Phase 2 Evaluate the Tear Film Quality Dynamics of Eyes Implanted With Multifocal Intraocular Lens and Monofocal Lenses. Unknown status NCT02234635

Search NIH Clinical Center for Aland Island Eye Disease

Cochrane evidence based reviews: vision disorders

Genetic Tests for Aland Island Eye Disease

Anatomical Context for Aland Island Eye Disease

MalaCards organs/tissues related to Aland Island Eye Disease:

40
Eye, Testes, Liver, Lung, Brain, Breast, Bone

Publications for Aland Island Eye Disease

Articles related to Aland Island Eye Disease:

(show top 50) (show all 105)
# Title Authors PMID Year
1
A novel CACNA1F gene mutation causes Aland Island eye disease. 61 56 6
17525176 2007
2
[A NEW EYE SYNDROME WITH X-CHROMOSOMAL TRANSMISSION. A FAMILY CLAN WITH FUNDUS ALBINISM, FOVEA HYPOPLASIA, NYSTAGMUS, MYOPIA, ASTIGMATISM AND DYSCHROMATOPSIA]. 56 6
14230113 1964
3
Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. 61 56
12111638 2002
4
Aland island eye disease: clinical and electrophysiological studies of a Welsh family. 61 56
7612552 1995
5
Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome. 61 56
7907666 1993
6
Aland eye disease: linkage data. 61 56
2071141 1991
7
Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis. 61 56
1985461 1991
8
Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy. 61 56
2220819 1990
9
Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia. 61 56
2159212 1990
10
Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness. 61 56
2667510 1989
11
Characteristic ERG-flicker anomaly in incomplete congenital stationary night blindness. 56
3499417 1987
12
On- and off-responses in photopic electroretinogram in complete and incomplete types of congenital stationary night blindness. 56
3498069 1987
13
Congenital stationary night blindness with negative electroretinogram. A new classification. 56
3488053 1986
14
Aland eye disease: no albino misrouting. 56
4075563 1985
15
Forsius-Eriksson syndrome: its relation to the Nettleship-Falls X-linked ocular albinism. 56
7398111 1980
16
Nystagmographical studies in Aland eye disease. 56
4545068 1973
17
Some notes on publications of Professor Arnold Sorsby and on Aland eye disease (Forsius-Eriksson syndrome). 56
5489090 1970
18
OCULAR ALBINISM AND PROTANOPIA IN THE SAME FAMILY. 56
14213931 1964
19
Nystagmus with pendular low amplitude, high frequency components (PLAHF) in association with retinal disease. 61
31889465 2019
20
Demystifying autoimmune inner ear disease. 61
31605190 2019
21
Pediatric Autoimmune Inner Ear Disease: A Rare, But Treatable Condition. 61
31609997 2019
22
miR‑10b‑3p, miR‑8112 and let‑7j as potential biomarkers for autoimmune inner ear diseases. 61
31115534 2019
23
Selective ratiometric fluorescence detection of hypochlorite by using aggregation-induced emission dots. 61
30796483 2019
24
Emerging options in immune-mediated hearing loss. 61
30828626 2019
25
The role of auditory evoked potentials and otoacoustic emissions in early detection of hearing abnormalities in Behçet's disease patients. A case control study. 61
29745880 2018
26
Effects of preovulatory estradiol on uterine environment and conceptus survival from fertilization to maternal recognition of pregnancy. 61
29672673 2018
27
Ear Involvement in Inflammatory Bowel Disease: A Review of the Literature. 61
29977417 2018
28
Autoimmune inner ear disease (AIED): A diagnostic challenge. 61
30376736 2018
29
Update on Vertigo in Autoimmune Disorders, from Diagnosis to Treatment. 61
30356417 2018
30
The Balance of Tissue Inhibitor of Metalloproteinase-1 and Matrix Metalloproteinase-9 in the Autoimmune Inner Ear Disease Patients. 61
28696822 2017
31
Mobile tablet audiometry in fluctuating autoimmune ear disease. 61
28270231 2017
32
Cochlear Impairment and Autoimmune Ear Disorder in a Patient with Breast Cancer. 61
28458811 2017
33
AAO: Autoimmune and Autoinflammatory (Disease) in Otology: What is New in Immune-Mediated Hearing Loss. 61
27917401 2016
34
Autoimmune sensorineural hearing loss as presenting manifestation of paediatric Behçet disease responding to adalimumab: a case report. 61
27600159 2016
35
Altered Brain Glucose Consumption in Cogan's Syndrome. 61
28050276 2016
36
Effect of extending the interval from Presynch to initiation of Ovsynch in a Presynch-Ovsynch protocol on fertility of timed artificial insemination services in lactating dairy cows. 61
26506551 2016
37
N-Acetylcysteine attenuates tumor necrosis factor alpha levels in autoimmune inner ear disease patients. 61
26392121 2015
38
Systematic Review of Treatments for Autoimmune Inner Ear Disease. 61
26485595 2015
39
Current understanding of the pathogenesis of autoimmune inner ear disease: a review. 61
25847404 2015
40
Goodpasture's syndrome: a clinical update. 61
25462583 2015
41
Cochlin in autoimmune inner ear disease: is the search for an inner ear autoantigen over? 61
25199741 2014
42
Penile fracture: retrospective analysis of our case history with long-term assessment of the erectile and sexological outcome. 61
25641472 2014
43
An open label study to evaluate the safety and efficacy of intratympanic golimumab therapy in patients with autoimmune inner ear disease. 61
25203561 2014
44
Early efficacy trial of anakinra in corticosteroid-resistant autoimmune inner ear disease. 61
25133431 2014
45
New prospects in the diagnosis and treatment of immune-mediated inner ear disease. 61
25332908 2014
46
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2. 61
24163243 2014
47
A critical role for interleukin-1β in the progression of autoimmune diseases. 61
24012439 2013
48
Innate immune recognition of molds and homology to the inner ear protein, cochlin, in patients with autoimmune inner ear disease. 61
23912888 2013
49
IL-1 receptor 2 (IL-1R2) and its role in immune regulation. 61
23195532 2013
50
Autoimmune inner ear disease preliminary case report: audiometric findings following steroid treatments. 61
23800807 2013

Variations for Aland Island Eye Disease

ClinVar genetic disease variations for Aland Island Eye Disease:

6 (show all 16) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CACNA1F NM_001256789.3(CACNA1F):c.244C>T (p.Arg82Ter)SNV Pathogenic 195237 rs797044676 X:49088171-49088171 X:49231709-49231709
2 CACNA1F CACNA1F, 425-BP DELdeletion Pathogenic 11621
3 CACNA1F NM_001256789.3(CACNA1F):c.1840C>T (p.Arg614Ter)SNV Pathogenic 265464 rs886039559 X:49081260-49081260 X:49224798-49224798
4 RPE65 NM_000329.3(RPE65):c.1338+1G>ASNV Pathogenic 374139 rs1057518922 1:68896964-68896964 1:68431281-68431281
5 PRR12 NM_020719.3(PRR12):c.1918G>T (p.Glu640Ter)SNV Pathogenic 446254 rs1555740650 19:50099510-50099510 19:49596253-49596253
6 PRR12 NM_020719.3(PRR12):c.4502_4505del (p.Leu1501fs)deletion Pathogenic 446255 rs1555741826 19:50104903-50104906 19:49601646-49601649
7 PRR12 NM_020719.3(PRR12):c.903_909dup (p.Pro304fs)duplication Pathogenic 446256 rs1555740394 19:50098491-50098492 19:49595234-49595235
8 46;X;t(Y;3)(p11.2;p12.3)dnTranslocation Likely pathogenic 267818
9 46;XY;t(4;14;4;1)(q28.2;q13.1;28.2q21;p32.3)dnTranslocation Likely pathogenic 267905
10 NF1 NM_000267.3(NF1):c.4172G>C (p.Arg1391Thr)SNV Conflicting interpretations of pathogenicity 523345 rs1555618516 17:29585423-29585423 17:31258405-31258405
11 CABP4 NM_145200.4(CABP4):c.773A>T (p.Asn258Ile)SNV Conflicting interpretations of pathogenicity 636004 11:67225963-67225963 11:67458492-67458492
12 CACNA1F NM_001256789.3(CACNA1F):c.4363T>C (p.Trp1455Arg)SNV Uncertain significance 636157 X:49067450-49067450 X:49210990-49210990
13 CACNA1F NM_001256789.3(CACNA1F):c.1108G>A (p.Val370Ile)SNV Uncertain significance 587564 rs782458308 X:49084508-49084508 X:49228046-49228046
14 WHRN NM_015404.4(WHRN):c.1850C>T (p.Ser617Leu)SNV Uncertain significance 598318 rs150146590 9:117169021-117169021 9:114406741-114406741
15 NF1 NM_000267.3(NF1):c.1987G>A (p.Gly663Arg)SNV Uncertain significance 184278 rs140653372 17:29552254-29552254 17:31225236-31225236
16 TOPORS NM_005802.5(TOPORS):c.2666A>G (p.His889Arg)SNV Uncertain significance 523487 rs762457246 9:32541857-32541857 9:32541859-32541859

UniProtKB/Swiss-Prot genetic disease variations for Aland Island Eye Disease:

73
# Symbol AA change Variation ID SNP ID
1 CACNA1F p.Gly603Arg VAR_071433 rs201654095

Expression for Aland Island Eye Disease

Search GEO for disease gene expression data for Aland Island Eye Disease.

Pathways for Aland Island Eye Disease

GO Terms for Aland Island Eye Disease

Biological processes related to Aland Island Eye Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 detection of light stimulus involved in visual perception GO:0050908 8.96 RPE65 CACNA1F
2 visual perception GO:0007601 8.92 RPE65 NYX GPR143 CACNA1F

Sources for Aland Island Eye Disease

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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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