Aliases & Classifications for Fundus Dystrophy

MalaCards integrated aliases for Fundus Dystrophy:

Name: Fundus Dystrophy 12 15
Retinal Dystrophy 12 30 6
Retinal Dystrophies 45 74
Dystrophy, Retinal 41

Classifications:



External Ids:

Disease Ontology 12 DOID:8501
MeSH 45 D058499
NCIt 51 C35625
UMLS 74 C0854723

Summaries for Fundus Dystrophy

MalaCards based summary : Fundus Dystrophy, also known as retinal dystrophy, is related to hereditary retinal dystrophy and severe early-childhood-onset retinal dystrophy. An important gene associated with Fundus Dystrophy is ABCA4 (ATP Binding Cassette Subfamily A Member 4), and among its related pathways/superpathways are Phototransduction and Metabolism of fat-soluble vitamins. The drugs Tocopherol and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and bone, and related phenotypes are no effect and nervous system

Related Diseases for Fundus Dystrophy

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

(show top 50) (show all 404)
# Related Disease Score Top Affiliating Genes
1 hereditary retinal dystrophy 34.6 CEP290 GUCY2D RS1
2 severe early-childhood-onset retinal dystrophy 34.5 ABCA4 LCA5 LRAT RPE65
3 cone-rod dystrophy 2 34.1 ABCA4 CERKL GUCY2D PRPH2 RPE65 RPGR
4 leber congenital amaurosis 3 33.2 LCA5 RDH12
5 macular dystrophy, dominant cystoid 33.1 BEST1 CRB1
6 alstrom syndrome 33.1 BBS1 RPGR VPS13B
7 leber congenital amaurosis 10 32.9 CEP290 RPE65
8 retinitis pigmentosa 50 32.8 BEST1 RPGR
9 retinitis pigmentosa 44 32.8 RDH12 RPGR
10 retinoschisis 1, x-linked, juvenile 32.6 CRB1 RPE65 RS1
11 bestrophinopathy 32.4 BEST1 PRPH2 RPE65
12 bardet-biedl syndrome 3 32.2 BBS1 BBS4
13 leber congenital amaurosis 32.1 ABCA4 BEST1 CEP290 CRB1 GUCY2D LCA5
14 stargardt disease 31.9 ABCA4 CRB1 EYS LRAT PRPH2 RDH12
15 leber congenital amaurosis 12 31.8 CEP290 GUCY2D RPE65
16 leber congenital amaurosis 9 31.2 CRB1 GUCY2D LCA5 RDH12 RPE65
17 macular dystrophy, vitelliform, 3 31.1 BEST1 PRPH2
18 bardet-biedl syndrome 31.0 BBS1 BBS10 BBS4 CEP290
19 macular degeneration, age-related, 1 31.0 ABCA4 BBS10 BEST1 CRB1 PRPH2 RPE65
20 yemenite deaf-blind hypopigmentation syndrome 30.9 ABCA4 CEP290 CRB1 GUCY2D RPE65 RPGR
21 usher syndrome, type id 30.9 CDHR1 USH2A
22 retinitis 30.8 CERKL EYS PRPH2 RPGR
23 retinitis pigmentosa 30.7 ABCA4 BBS1 BBS10 BBS4 BEST1 CDHR1
24 macular retinal edema 30.7 BEST1 CRB1
25 retinal degeneration 30.6 ABCA4 BEST1 CRB1 GUCY2D PRPH2 RPE65
26 bardet-biedl syndrome 6 30.6 BBS1 BBS10 BBS4
27 retinal disease 30.5 ABCA4 BEST1 CEP290 CRB1 GUCY2D PRPH2
28 mckusick-kaufman syndrome 30.4 BBS1 BBS4
29 sorsby fundus dystrophy 12.8
30 doyne honeycomb retinal dystrophy 12.7
31 retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities 12.6
32 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 12.6
33 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 12.5
34 retinal dystrophy with or without extraocular anomalies 12.5
35 pseudoinflammatory fundus dystrophy 12.5
36 retinal dystrophy and obesity 12.4
37 retinal dystrophy with or without macular staphyloma 12.4
38 retinal dystrophy, juvenile cataracts, and short stature syndrome 12.4
39 retinal dystrophy and iris coloboma with or without congenital cataract 12.3
40 retinal dystrophy, reticular pigmentary, of posterior pole 12.3
41 fundus dystrophy, pseudoinflammatory, recessive form 12.2
42 leber congenital amaurosis / early-onset severe retinal dystrophy 12.1
43 macular dystrophy, retinal, 3 12.1
44 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome 12.1
45 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 12.1
46 retinal dystrophies primarily involving bruch's membrane 12.1
47 leber congenital amaurosis 14 12.1
48 retinal dystrophy in systemic or cerebroretinal lipidoses 12.0
49 x-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome 12.0
50 cone-rod dystrophy 16 12.0

Graphical network of the top 20 diseases related to Fundus Dystrophy:



Diseases related to Fundus Dystrophy

Symptoms & Phenotypes for Fundus Dystrophy

GenomeRNAi Phenotypes related to Fundus Dystrophy according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ABCA4 BBS1 BBS10 BBS4 BEST1 CDHR1

MGI Mouse Phenotypes related to Fundus Dystrophy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.03 ABCA4 BBS1 BBS10 BBS4 CEP290 CRB1
2 pigmentation MP:0001186 9.65 ABCA4 BBS4 BEST1 CEP290 CRB1 LCA5
3 vision/eye MP:0005391 9.58 ABCA4 BBS1 BBS10 BBS4 BEST1 CDHR1

Drugs & Therapeutics for Fundus Dystrophy

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

(show top 50) (show all 122)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tocopherol Approved, Investigational Phase 3 1406-66-2 14986
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
3
Lutein Approved, Investigational, Nutraceutical Phase 3,Phase 1,Phase 2 127-40-2 6433159
4
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3,Phase 1 68-26-8, 22737-96-8, 11103-57-4 9904001 445354
5
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
6
Beta carotene Approved, Nutraceutical Phase 2, Phase 3,Phase 1 7235-40-7
7 Tocotrienol Investigational Phase 3 6829-55-6
8 Pharmaceutical Solutions Phase 3,Phase 2,Phase 1,Not Applicable
9 Retinol palmitate Phase 3,Phase 1
10 Protective Agents Phase 3,Phase 2,Phase 1
11 Micronutrients Phase 3,Phase 2,Phase 1,Early Phase 1
12 Nutrients Phase 3,Phase 2,Phase 1,Early Phase 1
13 retinol Phase 3,Phase 1
14 Bone Density Conservation Agents Phase 3
15 Trace Elements Phase 3,Phase 2,Phase 1,Early Phase 1
16 Vitamins Phase 3,Phase 2,Phase 1,Early Phase 1
17 Antioxidants Phase 3,Phase 2,Phase 1
18 Calciferol Phase 3
19 Tocopherols Phase 3
20 Tocotrienols Phase 3
21 Central Nervous System Depressants Phase 3,Phase 2
22 Antihypertensive Agents Phase 3,Phase 1,Phase 2
23 Anesthetics Phase 3,Phase 1,Phase 2
24 Carotenoids Phase 2, Phase 3,Phase 1
25 Provitamins Phase 2, Phase 3,Phase 1
26 Isopropyl unoprostone Phase 3
27
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
28
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
29
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
30
Iodine Approved, Investigational Phase 2,Phase 1 7553-56-2 807
31
Ciprofloxacin Approved, Investigational Phase 2,Phase 1 85721-33-1 2764
32
Povidone Approved Phase 2,Phase 1 9003-39-8
33
Povidone-iodine Approved Phase 2,Phase 1 25655-41-8
34
Minocycline Approved, Investigational Phase 1, Phase 2 10118-90-8 5281021
35
Carbidopa Approved Phase 2 28860-95-9 34359
36
Dopamine Approved Phase 2 62-31-7, 51-61-6 681
37
Levodopa Approved Phase 2 59-92-7 6047
38
Acetazolamide Approved, Vet_approved Phase 2 59-66-5 1986
39
Brinzolamide Approved Phase 2 138890-62-7 68844
40
Ranibizumab Approved Phase 2 347396-82-1 459903
41
Adapalene Approved Phase 1, Phase 2 106685-40-9 60164
42 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Not Applicable
43 Anti-Inflammatory Agents Phase 2
44 Hormone Antagonists Phase 2,Not Applicable
45 Autonomic Agents Phase 2
46 HIV Protease Inhibitors Phase 2
47 Antiemetics Phase 2
48 Gastrointestinal Agents Phase 2
49 BB 1101 Phase 2
50 glucocorticoids Phase 2

Interventional clinical trials:

(show top 50) (show all 167)
# Name Status NCT ID Phase Drugs
1 The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction Completed NCT00717080 Phase 4
2 Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A Completed NCT00346333 Phase 3 Lutein
3 Randomized Trial for Retinitis Pigmentosa Completed NCT00000116 Phase 3 Vitamin A;Nutritional Supplement
4 Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa Completed NCT00000114 Phase 3 Vitamin E;Vitamin A
5 Efficacy & Safety Study of Bilateral IVT Injection of GS010 in LHON Subjects Due to the ND4 Mutation for up to 1 Year Recruiting NCT03293524 Phase 3 Placebo
6 A Clinical Trial of Retinal Gene Therapy for X-linked Retinitis Pigmentosa Recruiting NCT03116113 Phase 2, Phase 3
7 The Effect of Oral Administration of 9-cis β Carotene Rich Powder of the Alga Dunaliella Bardawil Recruiting NCT01680510 Phase 2, Phase 3
8 Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis Active, not recruiting NCT00999609 Phase 3
9 Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa Terminated NCT01786395 Phase 3 UF-021;Placebo
10 Clinical Study to Evaluate Safety and Efficacy of BMMNC in Retinitis Pigmentosa Unknown status NCT01914913 Phase 1, Phase 2
11 Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study Unknown status NCT02804360 Phase 2
12 Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study Unknown status NCT02661711 Phase 2 Aflibercept
13 Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65 Completed NCT01496040 Phase 1, Phase 2 rAAV2/4.hRPE65
14 Safety Study of RPE65 Gene Therapy to Treat Leber Congenital Amaurosis Completed NCT00643747 Phase 1, Phase 2
15 Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01399515 Phase 2 Valproic Acid
16 A Dose Ranging Study to Evaluate the Safety and Potential Efficacy of rhNGF in Patients With Retinitis Pigmentosa (RP) Completed NCT02110225 Phase 1, Phase 2 rhNGF 60 µg/ml eye drops solution;rhNGF 180 µg/ml eye drops solution;Placebo
17 DHA and X-Linked Retinitis Pigmentosa Completed NCT00100230 Phase 2 docosahexaenoic acid OR corn/soy oil placebo
18 Safety of a Single, Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Retinitis Pigmentosa Completed NCT02320812 Phase 1, Phase 2
19 Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01560715 Phase 2
20 Trial of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01233609 Phase 2 Valproic Acid;Placebo
21 An Exploratory Study to Evaluate the Safety of Brimonidine Intravitreal Implant in Patients With Retinitis Pigmentosa Completed NCT00661479 Phase 1, Phase 2 400 µg Brimonidine Tartrate Implant;200 µg Brimonidine Tartrate Implant;100 µg Brimonidine Tartrate Implant
22 A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa Completed NCT00447993 Phase 2 NT-501;NT-501
23 A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa Completed NCT00447980 Phase 2 NT-501;NT-501
24 Safety Study in Retinal Transplantation for Retinitis Pigmentosa. Completed NCT00345917 Phase 2
25 Effects of Lutein in Retinitis Pigmentosa Completed NCT00029289 Phase 1, Phase 2 Lutein (10 or 30 mg/day) capsules
26 Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema Completed NCT02609165 Phase 2 rhNGF 180 µg/ml eye drops solution;vehicle eye drops
27 Study of Oral Minocycline in Treating Bilateral Cystoid Macular Edema Associated With Retinitis Pigmentosa Completed NCT02140164 Phase 1, Phase 2 Minocycline
28 Clinical Trial of Gene Therapy for the Treatment of Leber Congenital Amaurosis (LCA) Recruiting NCT02781480 Phase 1, Phase 2
29 Safety and Efficacy Study in Patients With Retinitis Pigmentosa Due to Mutations in PDE6B Gene Recruiting NCT03328130 Phase 1, Phase 2
30 A First-in-human, Proof of Concept Study of CPK850 in Patients With RLBP1 Retinitis Pigmentosa Recruiting NCT03374657 Phase 1, Phase 2
31 Dose-escalation Study to Evaluate the Safety and Tolerability of GS030 in Subjects With Retinitis Pigmentosa Recruiting NCT03326336 Phase 1, Phase 2
32 Safety and Efficacy of rAAV2tYF-GRK1-RPGR in Subjects With X-linked Retinitis Pigmentosa Caused by RPGR Mutations Recruiting NCT03316560 Phase 1, Phase 2
33 Gene Therapy for X-linked Retinitis Pigmentosa (XLRP) Retinitis Pigmentosa GTPase Regulator (RPGR) Recruiting NCT03252847 Phase 1, Phase 2
34 Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa Recruiting NCT02837640 Phase 2 levodopa-carbidopa
35 RST-001 Phase I/II Trial for Advanced Retinitis Pigmentosa Recruiting NCT02556736 Phase 1, Phase 2 RST-001
36 Safety and Tolerability of hRPC in Retinitis Pigmentosa Recruiting NCT02464436 Phase 1, Phase 2 hRPC
37 Study to Evaluate Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene Recruiting NCT03780257 Phase 1, Phase 2 QR-421a
38 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
39 Study of SAR421869 in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B Recruiting NCT01505062 Phase 1, Phase 2
40 Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy Active, not recruiting NCT03763227 Phase 2 Intravitreal ranibizumab (IVR) injection;Carbonic Anhydrase Inhibitor (CAI) therapy
41 Saffron Supplementation in Stargardt's Disease Active, not recruiting NCT01278277 Phase 1, Phase 2
42 Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa Active, not recruiting NCT03073733 Phase 2
43 Autologous Bone Marrow-Derived CD34+, CD133+, and CD271+ Stem Cell Transplantation for Retinitis Pigmentosa Active, not recruiting NCT02709876 Phase 1, Phase 2
44 Argus® II Retinal Stimulation System Feasibility Protocol Active, not recruiting NCT00407602 Phase 2
45 Retinal Imaging of Subjects Implanted With Ciliary Neurotrophic Factor (CNTF)-Releasing Encapsulated Cell Implant for Early-stage Retinitis Pigmentosa Active, not recruiting NCT01530659 Phase 2 NT-501
46 A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of UshStat® in Patients With Usher Syndrome Type 1B Enrolling by invitation NCT02065011 Phase 1, Phase 2 UshStat
47 Interventional Study of Implantation of hESC-derived RPE in Patients With RP Due to Monogenic Mutation Not yet recruiting NCT03963154 Phase 1, Phase 2
48 The Effect of Oral Administration of 9-cis Rich Powder of the Alga Dunaliella Bardawil on Visual Functions in Adolescent Patients With Retinitis Pigmentosa Not yet recruiting NCT02018692 Phase 1, Phase 2
49 Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS) Terminated NCT02338973 Phase 1, Phase 2 Interferon gamma-1b
50 Phase 1 Safety Study of ALK-001 in Healthy Volunteers Completed NCT02230228 Phase 1 ALK-001 (No generic name)

Search NIH Clinical Center for Fundus Dystrophy

Cochrane evidence based reviews: retinal dystrophies

Genetic Tests for Fundus Dystrophy

Genetic tests related to Fundus Dystrophy:

# Genetic test Affiliating Genes
1 Retinal Dystrophy 30

Anatomical Context for Fundus Dystrophy

MalaCards organs/tissues related to Fundus Dystrophy:

42
Eye, Retina, Bone, Testes, Bone Marrow, Endothelial, Cortex

Publications for Fundus Dystrophy

Articles related to Fundus Dystrophy:

(show top 50) (show all 454)
# Title Authors Year
1
Ophthalmic diagnosis and optical coherence tomography of abetalipoproteinemia, a treatable form of pediatric retinal dystrophy. ( 30731125 )
2019
2
Retinal dystrophy associated with Danon disease and pathogenic mechanism through LAMP2-mutated retinal pigment epithelium. ( 30836785 )
2019
3
Doyne honeycomb retinal dystrophy - functional improvement following subthreshold nanopulse laser treatment: a case report. ( 30626431 )
2019
4
Sorsby fundus dystrophy: Insights from the past and looking to the future. ( 30129971 )
2019
5
The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond. ( 30668888 )
2019
6
A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy. ( 30870047 )
2019
7
Retinal dystrophy associated with a single-base deletion mutation in mitochondrial DNA 3271 in patient with MELAS syndrome. ( 30701423 )
2019
8
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene. ( 30268864 )
2019
9
Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy. ( 30324420 )
2019
10
Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3). ( 30446867 )
2019
11
Non-syndromic retinal dystrophy associated with homozygous mutations in the ALMS1 gene. ( 30488743 )
2019
12
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. ( 30718709 )
2019
13
Gene therapy for retinal dystrophy. ( 30718907 )
2019
14
Phenotypic variability of SLC7A14 mutations in patients with inherited retinal dystrophy. ( 30924391 )
2019
15
A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants. ( 30926958 )
2019
16
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4. ( 30973214 )
2019
17
Retinal Dystrophy in Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency. ( 31047310 )
2018
18
Re: van Bree et al.: Straylight as an Indicator for Cataract Extraction in Patients with Retinal Dystrophy. ( 31047544 )
2018
19
Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG). ( 30019980 )
2018
20
Doyne honeycomb retinal dystrophy/malattia leventinese induced by EFEMP1 mutation in a Chinese family. ( 30541486 )
2018
21
Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese, Autosomal Dominant Drusen). ( 30578491 )
2018
22
Evaluation of Pro-re-Nata (PRN) and Treat and Extend Bevacizumab treatment protocols in Sorsby Fundus Dystrophy. ( 30421618 )
2018
23
Sorsby Pseudoinflammatory Fundus Dystrophy. ( 30578493 )
2018
24
Treatment of cystoid macular edema in homozygous twins with glutathione synthetase deficiency and retinal dystrophy. ( 29395598 )
2018
25
An N-terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy. ( 30549415 )
2018
26
Neuronal intranuclear hyaline inclusion disease presenting with childhood-onset night blindness associated with progressive retinal dystrophy. ( 29627037 )
2018
27
Retinal detachment in a child with severe early childhood onset retinal dystrophy. ( 30150358 )
2018
28
TOPICAL DORZOLAMIDE FOR CYSTOID MACULAR EDEMA IN BIETTI CRYSTALLINE RETINAL DYSTROPHY. ( 30028788 )
2018
29
Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT. ( 29987673 )
2018
30
Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype. ( 28369829 )
2018
31
Founder Ashkenazi Jewish mutations of large deletion in the inherited retinal dystrophy genes. ( 28726569 )
2018
32
A founder mutation in CERKL is a major cause of retinal dystrophy in Finland. ( 29068140 )
2018
33
Systemic inflammation induced by lipopolysaccharide aggravates inherited retinal dystrophy. ( 29500424 )
2018
34
Prospect of retinal gene therapy following commercialization of voretigene neparvovec-rzyl for retinal dystrophy mediated by RPE65 mutation. ( 29564403 )
2018
35
Are CSNK2A1 gene mutations associated with retinal dystrophy? Report of a patient carrier of a novel de novo splice site mutation. ( 29568000 )
2018
36
Voretigene neparvovec-rzyl (Luxturna) for inherited retinal dystrophy. ( 29635265 )
2018
37
Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants. ( 29681726 )
2018
38
Results at 5 Years After Gene Therapy for RPE65-Deficient Retinal Dystrophy. ( 29869534 )
2018
39
A NOVEL CASE SERIES OF NMNAT1-ASSOCIATED EARLY-ONSET RETINAL DYSTROPHY: EXTENDING THE PHENOTYPIC SPECTRUM. ( 30004997 )
2018
40
Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study. ( 30029497 )
2018
41
Retained Plasticity and Substantial Recovery of Rod-Mediated Visual Acuity at the Visual Cortex in Blind Adult Mice with Retinal Dystrophy. ( 30064895 )
2018
42
RETINAL DYSTROPHY IN A PATIENT WITH MCARDLE DISEASE. ( 30074569 )
2018
43
Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy. ( 30090012 )
2018
44
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY. ( 30134391 )
2018
45
A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS-based genetic diagnosis. ( 30160356 )
2018
46
Development of High-Throughput Clinical Testing of RPGR ORF15 Using a Large Inherited Retinal Dystrophy Cohort. ( 30193314 )
2018
47
Posterior polar annular and hemispheric choroidal and retinal dystrophy: Optical coherence tomographic angiography description of a rare case. ( 30451210 )
2018
48
Commentary: Posterior polarannular and hemispheric choroidal and retinal dystrophy: Optical coherence tomographic angiography description of a rare case. ( 30451211 )
2018
49
Genetic Testing for Inherited Retinal Dystrophy: Basic Understanding. ( 30578525 )
2018
50
Cataract surgery outcomes and complications in retinal dystrophy patients. ( 29217020 )
2017

Variations for Fundus Dystrophy

ClinVar genetic disease variations for Fundus Dystrophy:

6 (show top 50) (show all 758)
# Gene Variation Type Significance SNP ID Assembly Location
1 HGSNAT NM_152419.2(HGSNAT): c.848C> T (p.Pro283Leu) single nucleotide variant Likely pathogenic rs121908282 GRCh37 Chromosome 8, 43028883: 43028883
2 HGSNAT NM_152419.2(HGSNAT): c.848C> T (p.Pro283Leu) single nucleotide variant Likely pathogenic rs121908282 GRCh38 Chromosome 8, 43173740: 43173740
3 IQCB1 NM_001023570.3(IQCB1): c.1381C> T (p.Arg461Ter) single nucleotide variant Pathogenic rs121918244 GRCh37 Chromosome 3, 121500619: 121500619
4 IQCB1 NM_001023570.3(IQCB1): c.1381C> T (p.Arg461Ter) single nucleotide variant Pathogenic rs121918244 GRCh38 Chromosome 3, 121781772: 121781772
5 RDH12 NM_152443.2(RDH12): c.806_810delCCCTG (p.Ala269Glyfs) deletion Pathogenic rs386834261 GRCh37 Chromosome 14, 68196055: 68196059
6 RDH12 NM_152443.2(RDH12): c.806_810delCCCTG (p.Ala269Glyfs) deletion Pathogenic rs386834261 GRCh38 Chromosome 14, 67729338: 67729342
7 USH2A NM_206933.2(USH2A): c.2299delG (p.Glu767Serfs) deletion Pathogenic/Likely pathogenic rs80338903 GRCh37 Chromosome 1, 216420437: 216420437
8 USH2A NM_206933.2(USH2A): c.2299delG (p.Glu767Serfs) deletion Pathogenic/Likely pathogenic rs80338903 GRCh38 Chromosome 1, 216247095: 216247095
9 USH2A NM_206933.2(USH2A): c.2276G> T (p.Cys759Phe) single nucleotide variant Pathogenic/Likely pathogenic rs80338902 GRCh37 Chromosome 1, 216420460: 216420460
10 USH2A NM_206933.2(USH2A): c.2276G> T (p.Cys759Phe) single nucleotide variant Pathogenic/Likely pathogenic rs80338902 GRCh38 Chromosome 1, 216247118: 216247118
11 CERKL NM_201548.4(CERKL): c.769C> T (p.Arg257Ter) single nucleotide variant Pathogenic rs121909398 GRCh37 Chromosome 2, 182423344: 182423344
12 CERKL NM_201548.4(CERKL): c.769C> T (p.Arg257Ter) single nucleotide variant Pathogenic rs121909398 GRCh38 Chromosome 2, 181558617: 181558617
13 CNGB3 NM_019098.4(CNGB3): c.1148delC (p.Thr383Ilefs) deletion Conflicting interpretations of pathogenicity rs397515360 GRCh37 Chromosome 8, 87656009: 87656009
14 CNGB3 NM_019098.4(CNGB3): c.1148delC (p.Thr383Ilefs) deletion Conflicting interpretations of pathogenicity rs397515360 GRCh38 Chromosome 8, 86643781: 86643781
15 PROM1 NM_006017.2(PROM1): c.1726C> T (p.Gln576Ter) single nucleotide variant Pathogenic rs137853005 GRCh37 Chromosome 4, 15995651: 15995651
16 PROM1 NM_006017.2(PROM1): c.1726C> T (p.Gln576Ter) single nucleotide variant Pathogenic rs137853005 GRCh38 Chromosome 4, 15994028: 15994028
17 PROM1 NM_006017.2(PROM1): c.1117C> T (p.Arg373Cys) single nucleotide variant Pathogenic rs137853006 GRCh37 Chromosome 4, 16014922: 16014922
18 PROM1 NM_006017.2(PROM1): c.1117C> T (p.Arg373Cys) single nucleotide variant Pathogenic rs137853006 GRCh38 Chromosome 4, 16013299: 16013299
19 ABCA4 NM_000350.2(ABCA4): c.2588G> C (p.Gly863Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs76157638 GRCh37 Chromosome 1, 94517254: 94517254
20 ABCA4 NM_000350.2(ABCA4): c.2588G> C (p.Gly863Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs76157638 GRCh38 Chromosome 1, 94051698: 94051698
21 ABCA4 NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs1800553 GRCh37 Chromosome 1, 94473807: 94473807
22 ABCA4 NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs1800553 GRCh38 Chromosome 1, 94008251: 94008251
23 ABCA4 NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val) single nucleotide variant Pathogenic/Likely pathogenic rs61751374 GRCh37 Chromosome 1, 94508969: 94508969
24 ABCA4 NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val) single nucleotide variant Pathogenic/Likely pathogenic rs61751374 GRCh38 Chromosome 1, 94043413: 94043413
25 ABCA4 NM_000350.2(ABCA4): c.1622T> C (p.Leu541Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs61751392 GRCh37 Chromosome 1, 94528806: 94528806
26 ABCA4 NM_000350.2(ABCA4): c.1622T> C (p.Leu541Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs61751392 GRCh38 Chromosome 1, 94063250: 94063250
27 ABCA4 NM_000350.2(ABCA4): c.6088C> T (p.Arg2030Ter) single nucleotide variant Pathogenic rs61751383 GRCh37 Chromosome 1, 94471056: 94471056
28 ABCA4 NM_000350.2(ABCA4): c.6088C> T (p.Arg2030Ter) single nucleotide variant Pathogenic rs61751383 GRCh38 Chromosome 1, 94005500: 94005500
29 GUCY2D NM_000180.3(GUCY2D): c.2513G> A (p.Arg838His) single nucleotide variant Pathogenic rs61750173 GRCh37 Chromosome 17, 7918019: 7918019
30 GUCY2D NM_000180.3(GUCY2D): c.2513G> A (p.Arg838His) single nucleotide variant Pathogenic rs61750173 GRCh38 Chromosome 17, 8014701: 8014701
31 RS1 NM_000330.3(RS1): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs61752067 GRCh37 Chromosome X, 18665333: 18665333
32 RS1 NM_000330.3(RS1): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs61752067 GRCh38 Chromosome X, 18647213: 18647213
33 RP2 NM_006915.2(RP2): c.358C> T (p.Arg120Ter) single nucleotide variant Pathogenic rs104894927 GRCh37 Chromosome X, 46713166: 46713166
34 RP2 NM_006915.2(RP2): c.358C> T (p.Arg120Ter) single nucleotide variant Pathogenic rs104894927 GRCh38 Chromosome X, 46853731: 46853731
35 BBS1 NM_024649.4(BBS1): c.1169T> G (p.Met390Arg) single nucleotide variant Pathogenic rs113624356 GRCh37 Chromosome 11, 66293652: 66293652
36 BBS1 NM_024649.4(BBS1): c.1169T> G (p.Met390Arg) single nucleotide variant Pathogenic rs113624356 GRCh38 Chromosome 11, 66526181: 66526181
37 CRB1 NM_201253.2(CRB1): c.2843G> A (p.Cys948Tyr) single nucleotide variant Pathogenic rs62645748 GRCh37 Chromosome 1, 197403836: 197403836
38 CRB1 NM_201253.2(CRB1): c.2843G> A (p.Cys948Tyr) single nucleotide variant Pathogenic rs62645748 GRCh38 Chromosome 1, 197434706: 197434706
39 KCNV2 NM_133497.3(KCNV2): c.8_11delAACA (p.Lys3Argfs) deletion Pathogenic rs786205121 GRCh37 Chromosome 9, 2717747: 2717750
40 KCNV2 NM_133497.3(KCNV2): c.8_11delAACA (p.Lys3Argfs) deletion Pathogenic rs786205121 GRCh38 Chromosome 9, 2717747: 2717750
41 MYO7A NM_000260.3(MYO7A): c.132+5G> A single nucleotide variant Likely pathogenic rs397516284 GRCh37 Chromosome 11, 76853873: 76853873
42 MYO7A NM_000260.3(MYO7A): c.132+5G> A single nucleotide variant Likely pathogenic rs397516284 GRCh38 Chromosome 11, 77142827: 77142827
43 USH2A NM_206933.2(USH2A): c.5858C> G (p.Ala1953Gly) single nucleotide variant Uncertain significance rs41302239 GRCh37 Chromosome 1, 216243634: 216243634
44 USH2A NM_206933.2(USH2A): c.5858C> G (p.Ala1953Gly) single nucleotide variant Uncertain significance rs41302239 GRCh38 Chromosome 1, 216070292: 216070292
45 USH2A NM_206933.2(USH2A): c.8320G> A (p.Ala2774Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs111033533 GRCh37 Chromosome 1, 216052344: 216052344
46 USH2A NM_206933.2(USH2A): c.8320G> A (p.Ala2774Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs111033533 GRCh38 Chromosome 1, 215879002: 215879002
47 VPS13B NM_017890.4(VPS13B): c.11314C> T (p.Gln3772Ter) single nucleotide variant Pathogenic rs386834061 GRCh37 Chromosome 8, 100880540: 100880540
48 VPS13B NM_017890.4(VPS13B): c.11314C> T (p.Gln3772Ter) single nucleotide variant Pathogenic rs386834061 GRCh38 Chromosome 8, 99868312: 99868312
49 CEP290 NM_025114.3(CEP290): c.5493delA (p.Ala1832Profs) deletion Pathogenic rs386834158 GRCh37 Chromosome 12, 88471567: 88471567
50 CEP290 NM_025114.3(CEP290): c.5493delA (p.Ala1832Profs) deletion Pathogenic rs386834158 GRCh38 Chromosome 12, 88077790: 88077790

Expression for Fundus Dystrophy

Search GEO for disease gene expression data for Fundus Dystrophy.

Pathways for Fundus Dystrophy

GO Terms for Fundus Dystrophy

Cellular components related to Fundus Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.87 BBS1 BBS10 BBS4 CEP290 LCA5 RPGR
2 microtubule organizing center GO:0005815 9.8 BBS1 BBS4 CEP290 LCA5 RPGR
3 cilium GO:0005929 9.73 BBS1 BBS10 BBS4 CEP290 LCA5 RPGR
4 photoreceptor connecting cilium GO:0032391 9.54 BBS4 CEP290 USH2A
5 photoreceptor disc membrane GO:0097381 9.46 ABCA4 GUCY2D
6 photoreceptor inner segment GO:0001917 9.46 BBS4 CERKL CRB1 USH2A
7 BBSome GO:0034464 9.43 BBS1 BBS4
8 ciliary basal body GO:0036064 9.35 BBS1 BBS4 CEP290 RPGR USH2A
9 photoreceptor outer segment GO:0001750 9.02 ABCA4 BBS4 CERKL PRPH2 RPGR

Biological processes related to Fundus Dystrophy according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.95 BBS1 BBS4 CEP290 LCA5 VPS13B
2 cilium assembly GO:0060271 9.8 BBS1 BBS4 CEP290 RPGR
3 visual perception GO:0007601 9.8 ABCA4 BBS1 BBS10 BBS4 BEST1 EYS
4 cell projection organization GO:0030030 9.76 BBS1 BBS4 CEP290 RPGR
5 photoreceptor cell maintenance GO:0045494 9.7 ABCA4 BBS1 BBS10 BBS4 CDHR1 RDH12
6 retinoid metabolic process GO:0001523 9.62 ABCA4 LRAT RDH12 RPE65
7 non-motile cilium assembly GO:1905515 9.61 BBS1 BBS10 BBS4
8 retinol metabolic process GO:0042572 9.58 LRAT RDH12 RPE65
9 protein localization to cilium GO:0061512 9.56 BBS1 BBS4
10 retina homeostasis GO:0001895 9.56 BBS1 BBS10 BBS4 RPE65
11 intraciliary transport GO:0042073 9.54 LCA5 RPGR
12 detection of light stimulus involved in visual perception GO:0050908 9.54 BEST1 EYS RPE65
13 eye photoreceptor cell development GO:0042462 9.52 CEP290 CRB1
14 photoreceptor cell outer segment organization GO:0035845 9.51 BBS4 CDHR1
15 vitamin A metabolic process GO:0006776 9.48 LRAT RPE65
16 response to stimulus GO:0050896 9.44 ABCA4 BBS1 BBS10 BBS4 BEST1 EYS

Molecular functions related to Fundus Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II repressing transcription factor binding GO:0001103 8.8 BBS1 BBS10 BBS4

Sources for Fundus Dystrophy

3 CDC
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