Aliases & Classifications for Fundus Dystrophy

MalaCards integrated aliases for Fundus Dystrophy:

Name: Fundus Dystrophy 12 15
Retinal Dystrophy 12 29 6
Retinal Dystrophies 43 71
Dystrophy, Retinal 39

Classifications:



External Ids:

Disease Ontology 12 DOID:8501
MeSH 43 D058499
NCIt 49 C35625
UMLS 71 C0854723

Summaries for Fundus Dystrophy

MalaCards based summary : Fundus Dystrophy, also known as retinal dystrophy, is related to cone-rod dystrophy 2 and hereditary 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 Central Nervous System Depressants and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and testes, and related phenotypes are Decreased viability and Decreased viability

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 540)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 2 35.8 USH2A RPGR RPE65 PRPH2 PDE6B NR2E3
2 hereditary retinal dystrophy 35.8 USH2A RS1 RPE65 RDH12 GUCY2D EYS
3 doyne honeycomb retinal dystrophy 35.6 PRPH2 BEST1 ABCA4
4 severe early-childhood-onset retinal dystrophy 35.3 RPE65 LRAT LCA5 ABCA4
5 senior-loken syndrome 1 35.2 USH2A RPGR RPE65 RDH12 LCA5 GUCY2D
6 leber congenital amaurosis / early-onset severe retinal dystrophy 34.7 RPE65 CEP290
7 leber congenital amaurosis 14 34.7 RDH12 LRAT LCA5
8 leber congenital amaurosis 34.5 USH2A RS1 RPGR RPE65 RDH12 PRPH2
9 joubert syndrome 1 34.5 RPGR RPE65 RDH12 LRAT LCA5 GUCY2D
10 achromatopsia 34.4 USH2A RS1 RPGR RPE65 RDH12 PRPH2
11 cone-rod dystrophy 6 34.4 RPGR RPE65 PRPH2 PDE6B GUCY2D CRB1
12 leber congenital amaurosis 1 34.4 RPE65 RDH12 PRPH2 LRAT LCA5 GUCY2D
13 leber congenital amaurosis 4 34.4 RPE65 RDH12 PRPH2 LRAT LCA5 GUCY2D
14 leber congenital amaurosis 3 34.3 RPE65 RDH12 LRAT LCA5 GUCY2D CRB1
15 leber congenital amaurosis 10 34.3 RPGR RPE65 RDH12 LCA5 GUCY2D CRB1
16 leber congenital amaurosis 2 34.3 RPE65 RDH12 LRAT LCA5 GUCY2D CRB1
17 leber congenital amaurosis 6 34.2 RDH12 LRAT LCA5 GUCY2D CRB1 CEP290
18 stargardt disease 34.1 USH2A RS1 RPGR RPE65 RDH12 PRPH2
19 retinoschisis 1, x-linked, juvenile 34.1 RS1 RPGR RPE65 NR2E3 CRB1 ABCA4
20 leber congenital amaurosis 11 34.0 RDH12 LCA5 GUCY2D CRB1
21 leber congenital amaurosis 7 34.0 RDH12 LCA5 GUCY2D CRB1
22 leber congenital amaurosis 8 34.0 RDH12 LCA5 GUCY2D CRB1
23 fundus albipunctatus 34.0 USH2A RS1 RPGR RPE65 RDH12 PRPH2
24 retinitis pigmentosa 50 34.0 RPGR PRPH2 EYS BEST1
25 retinitis pigmentosa 25 34.0 RPGR PRPH2 EYS CDHR1
26 leber congenital amaurosis 13 33.9 RDH12 LRAT LCA5
27 leber congenital amaurosis 15 33.9 RDH12 LRAT LCA5
28 retinitis pigmentosa 35 33.9 RPGR RDH12 CDHR1
29 macular dystrophy, dominant cystoid 33.9 USH2A RS1 NR2E3 CRB1 BEST1 ABCA4
30 retinitis pigmentosa 40 33.9 RPGR PRPF31 PDE6B
31 retinitis pigmentosa 26 33.9 RPGR CERKL CDHR1
32 enhanced s-cone syndrome 33.9 RPGR RPE65 NR2E3
33 bestrophinopathy, autosomal recessive 33.8 RPE65 PRPH2 CRB1 BEST1 ABCA4
34 usher syndrome 33.7 USH2A RPGR RPE65 RDH12 PRPH2 PRPF31
35 retinitis pigmentosa 39 33.7 USH2A RPGR
36 retinitis pigmentosa 44 33.7 RDH12 CDHR1
37 choroideremia 33.7 USH2A RPGR RPE65 ABCA4
38 retinitis pigmentosa 19 33.6 RPGR ABCA4
39 retinitis pigmentosa 14 33.5 RPGR CERKL
40 late-onset retinal degeneration 33.5 RPGR EYS CRB1
41 newfoundland rod-cone dystrophy 33.4 PRPH2 LRAT
42 retinitis pigmentosa 20 33.4 RPGR RPE65
43 alstrom syndrome 33.2 RPGR CEP290 BBS1
44 macular degeneration, age-related, 1 33.2 USH2A RS1 RPGR RPE65 RDH12 PRPH2
45 bothnia retinal dystrophy 33.0 PRPH2 LRAT
46 leber congenital amaurosis 9 33.0 RPE65 RDH12 LRAT LCA5 GUCY2D CRB1
47 retinitis pigmentosa 32.9 USH2A RS1 RPGR RPE65 RDH12 PRPH2
48 retinal disease 32.9 USH2A RS1 RPGR RPE65 RDH12 PRPH2
49 cone-rod dystrophy 3 32.9 GUCY2D ABCA4
50 usher syndrome, type i 32.8 USH2A RPGR RPE65 PDE6B

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.13 GUCY2D
2 Decreased viability GR00106-A-0 10.13 PRPF31
3 Decreased viability GR00221-A-1 10.13 CERKL GUCY2D
4 Decreased viability GR00221-A-2 10.13 GUCY2D
5 Decreased viability GR00221-A-3 10.13 CERKL GUCY2D
6 Decreased viability GR00221-A-4 10.13 GUCY2D
7 Decreased viability GR00240-S-1 10.13 GUCY2D
8 Decreased viability GR00381-A-1 10.13 LRAT
9 Decreased viability GR00402-S-2 10.13 ABCA4 BBS1 BEST1 CDHR1 CEP290 CERKL
10 no effect GR00402-S-1 9.62 ABCA4 BBS1 BEST1 CDHR1 CEP290 CERKL

MGI Mouse Phenotypes related to Fundus Dystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.03 ABCA4 BBS1 CEP290 CRB1 GUCY2D LCA5
2 pigmentation MP:0001186 9.7 ABCA4 BEST1 CEP290 CRB1 LCA5 PDE6B
3 vision/eye MP:0005391 9.6 ABCA4 BBS1 BEST1 CDHR1 CEP290 CERKL

Drugs & Therapeutics for Fundus Dystrophy

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

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Central Nervous System Depressants Phase 3
2 Anesthetics Phase 3
3 Pharmaceutical Solutions Phase 3
4
Acetazolamide Approved, Vet_approved Phase 2 59-66-5 1986
5
Brinzolamide Approved Phase 2 138890-62-7 68844
6
Ranibizumab Approved Phase 2 347396-82-1 459903
7
Minocycline Approved, Investigational Phase 2 10118-90-8 5281021
8 Angiogenesis Inhibitors Phase 2
9 Carbonic Anhydrase Inhibitors Phase 2
10 Ophthalmic Solutions Phase 1, Phase 2
11 Mitogens Phase 1, Phase 2
12 Anti-Bacterial Agents Phase 2
13 Anti-Infective Agents Phase 2
14 Antioxidants Phase 2
15 Protective Agents Phase 2
16
acetic acid Approved Phase 1 64-19-7 176
17
Vitamin A Approved, Nutraceutical, Vet_approved Phase 1 68-26-8, 11103-57-4, 22737-96-8 445354 9904001
18 Vitamins Phase 1
19 Trace Elements Phase 1
20 retinol Phase 1
21 Nutrients Phase 1
22
Retinol acetate Phase 1 127-47-9 10245972
23 Retinol palmitate Phase 1
24 Micronutrients Phase 1
25 Gastrins
26 Hormone Antagonists
27 Melanocyte-Stimulating Hormones
28 Adrenocorticotropic Hormone
29 alpha-MSH 581-05-5
30 beta-endorphin
31 Hormones
32 Insulin, Globin Zinc
33 insulin

Interventional clinical trials:

(show all 45)
# Name Status NCT ID Phase Drugs
1 A Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis (LCA) Using Adeno-Associated Viral Vector to Deliver the Gene for Human RPE65 to the Retinal Pigment Epithelium (RPE) [AAV2-hRPE65v2-301] Active, not recruiting NCT00999609 Phase 3
2 Efficacy and Safety of Bilateral Intravitreal Injection of GS010: A Randomized, Double-Masked, Placebo-Controlled Trial in Subjects Affected With G11778A ND4 Leber Hereditary Optic Neuropathy for Up to One Year Active, not recruiting NCT03293524 Phase 3 Placebo
3 A Novel Therapeutic Strategy Targeting Photoreceptor Oxidative Damage in ABCR-related Retinal Degenerations Unknown status NCT01278277 Phase 1, Phase 2
4 Efficacy and Safety of Intravitreal Ranibizumab (Lucentis®) Injection in the Treatment of Non-leaking Macular Cysts in Patients With Retinal Dystrophy. Completed NCT03763227 Phase 2 Intravitreal ranibizumab (IVR) injection;Carbonic Anhydrase Inhibitor (CAI) therapy
5 Prospective Monocentric Open Label Non Randomized Uncontrolled Phase I/II Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65 Completed NCT01496040 Phase 1, Phase 2 rAAV2/4.hRPE65
6 An Open-label, Multi-centre, Phase I/II Dose Escalation Trial of an Adeno Associated Virus Vector for Gene Therapy of Adults And Children With Retinal Dystrophy Associated With Defects in RPE65 (LCA) Completed NCT02781480 Phase 1, Phase 2
7 An Open-label Dose Escalation Study of an Adeno-associated Virus Vector (AAV2/2-hRPE65p-hRPE65) for Gene Therapy of Severe Early-onset Retinal Degeneration Completed NCT00643747 Phase 1, Phase 2
8 A 24 Week Phase Ib/II, Multicenter, Randomized, Controlled, Parallel Group, Dose Ranging Study With a 24 Week Follow-up to Evaluate Safety and Potential Efficacy of 2 Doses (60, 180 µg/ml) of rhNGF Solution vs Vehicle in Patients With RP. Completed NCT02110225 Phase 1, Phase 2 rhNGF 60 µg/ml eye drops solution;rhNGF 180 µg/ml eye drops solution;Placebo
9 The Efficacy and Safety of Oral Minocycline in the Treatment of Retinitis Pigmentosa: An Open-label Clinical Trial Recruiting NCT04068207 Phase 2 Minocycline
10 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
11 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
12 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
13 A Phase 1, Open Label, Repeat Dose Study to Investigate the Safety and Pharmacokinetics of 4-week Daily Dosing of ALK-001 in Healthy Volunteers Completed NCT02230228 Phase 1 ALK-001 (No generic name)
14 Pilot Study on the Effect of Vitamin A Supplementation on Cone Function in Retinitis Pigmentosa Completed NCT00065455 Phase 1 Vitamin A
15 Observational, Follow-up Study of Adaptive Optics Retinal Imaging in Controls and During Retinal or General Diseases Unknown status NCT01546181
16 Restoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal Dystrophy (Title in France: Compensation of Vision With the Intelligent Retinal Implant System (IRIS V1) in Patients With Retinal Dystrophy) Completed NCT01864486
17 Genetical, Multi-center, Prospective Study of Phenotyping and Genotyping of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy in the Aim of the Realisation of a Clinical Trial of Gene Therapy Completed NCT00422721
18 Optical Head-Mounted Display Technology for Low Vision Rehabilitation Completed NCT02983305
19 Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal Dystrophy Completed NCT02670980
20 Clinical Efficacy of the Pinhole Soft Contact Lenses for Correcting Presbyopia Completed NCT02612584
21 A Randomised Crossover Study to Assess the Usability of Two New Vision Tests in Patients With Low Vision, and Relationship of the Measures to Daily Living Tasks. Completed NCT01876147
22 Follow-up to 5 Years of a Phase I/II, Open-Label, Multi-Center, Prospective Study to Determine the Safety and Tolerability of Sub-retinal Transplantation of Human Embryonic Stem Cell Derived Retinal Pigmented Epithelial (hESC-RPE) Cells in Patients With Stargardt's Macular Dystrophy (SMD) Completed NCT02941991
23 Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families: Establishment of Genotype-phenotype Correlations and Updating the Clinical Definition of This Retinal Dystrophy Completed NCT02970266
24 Objective Perimetry in Normal Subjects,Glaucoma Patients and Retinal Dystrophy Patients Recruiting NCT02014389
25 Study on the Effects of Mutations Under Inherited Retinal Disease in Korean Recruiting NCT03613948
26 Long-term Follow-up Study of Participants Following an Open Label, Multi-centre, Phase I/II Dose Escalation Trial of an Adeno-associated Virus Vector (AAV2/5-OPTIRPE65) for Gene Therapy of Adults and Children With Retinal Dystrophy Owing to Defects in RPE65 (LCA2) Recruiting NCT02946879
27 A Post-Authorization, Multicenter, Longitudinal, Observational Safety Registry Study for Patients Treated With Voretigene Neparvovec Recruiting NCT03597399
28 Establishment of the National Registry for Inherited Retinal Dystrophy in Iran Recruiting NCT04131400
29 Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR) Recruiting NCT03349242
30 Prospective Analysis of "Genotype-phenotype" Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD Recruiting NCT03662386
31 Multi-center Observation of the Natural Course of Inherited Retinal Dystrophies Recruiting NCT03691168
32 Bone Marrow Derived Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541
33 iPS Cells of Patients for Models of Retinal Dystrophies Recruiting NCT03853252
34 Natural History of the Progression of Choroideremia Study Recruiting NCT03359551
35 The Natural History of Mucolipidosis Type IV Recruiting NCT01067742
36 The Role of Alpha Melanocyte Stimulating Hormone in Ocular Disease Recruiting NCT03451578
37 Observational Registry Study of Leber Hereditary Optic Neuropathy (LHON) Affected Patients Recruiting NCT03295071
38 Combined Coaxial Optical Coherence Tomography System to Image the Retina and Choroidal Structures and Estimate Tissue Reflectivity in Healthy and Diseased Retinas Recruiting NCT03843840
39 A Long-Term Follow-Up Study in Subjects Who Received an Adenovirus-Associated Viral Vector Serotype 2 Containing the Human RPE65 Gene (AAV2-hRPE65v2, Voretigene Neparvovec-rzyl) Administered Via Subretinal Injection Active, not recruiting NCT03602820
40 EAP Single Patient: Safety of Bilateral Intravitreal Injection of GS010 in a Single Subject Affected With G11778A ND4 Leber Hereditary Optic Neuropathy Available NCT03672968
41 Bone Marrow Derived Stem Cell Ophthalmology Treatment Study Enrolling by invitation NCT01920867
42 Performance of Optimized Long-wavelength Fundus Autofluorescence Imaging in Patients With Retinal Diseases Not yet recruiting NCT03592017
43 Impact on Daily Life of Patients Using the Subretinal Implant RETINA IMPLANT Alpha AMS Terminated NCT03561922
44 Novel Quantification Methods for Fundus Flavoprotein Fluorescence and Lipofuscin Fluorescence to Detect Progression in Stargardt Disease Terminated NCT01676766
45 Bardet-Biedl Syndrome: Phenotype and Metabolic Characteristics Terminated NCT00078091

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 29

Anatomical Context for Fundus Dystrophy

MalaCards organs/tissues related to Fundus Dystrophy:

40
Retina, Eye, Testes, Kidney, Bone, Brain, Endothelial

Publications for Fundus Dystrophy

Articles related to Fundus Dystrophy:

(show top 50) (show all 1557)
# Title Authors PMID Year
1
(Z)-7,4'-Dimethoxy-6-hydroxy-aurone-4-O-β-glucopyranoside mitigates retinal degeneration in Rd10 mouse model through inhibiting oxidative stress and inflammatory responses. 61
31648555 2020
2
Expanding the retinal phenotype of RP1: from retinitis pigmentosa to a novel and singular macular dystrophy. 61
31079053 2020
3
Expanding the phenotypic spectrum in RDH12-associated retinal disease. 61
32014858 2020
4
GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies. 61
31704230 2020
5
Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy. 61
32039647 2020
6
RETINAL DYSTROPHY IN JEUNE SYNDROME: A MULTIMODAL IMAGING CHARACTERIZATION. 61
31958104 2020
7
A founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds. 61
31933420 2020
8
Evaluation of Pro-re-Nata (PRN) and Treat and Extend Bevacizumab treatment protocols in Sorsby Fundus Dystrophy. 61
30421618 2020
9
Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1. 61
31939038 2020
10
CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability. 61
30602132 2020
11
Fundus autofluorescence, spectral-domain optical coherence tomography, and histology correlations in a Stargardt disease mouse model. 61
31989709 2020
12
RPE65 and retinal dystrophy: Report of new and recurrent mutations. 61
31957135 2020
13
Choroidal hyper-reflective foci and vascularity in retinal dystrophy. 61
31856490 2020
14
Sharpening the Molecular Scissors: Advances in Gene-Editing Technology. 61
31901636 2020
15
Generation of a human induced pluripotent stem cell line from a patient with Leber congenital amaurosis. 61
32036247 2020
16
Late presentation of RPE65 retinopathy in three siblings. 61
31925606 2020
17
Gene editing prospects for treating inherited retinal diseases. 61
31857428 2019
18
Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy. 61
31804667 2019
19
Mutation spectrum and genotype-phenotype correlation of inherited retinal dystrophy in Taiwan. 61
31872526 2019
20
Expanding the clinical and genetic spectrum of Heimler syndrome. 61
31831025 2019
21
Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa. 61
31856884 2019
22
The Diverse Roles of TIMP-3: Insights into Degenerative Diseases of the Senescent Retina and Brain. 61
31877820 2019
23
Sorsby fundus dystrophy with polypoidal choroidal vasculopathy: Extending TIMP3 phenotypes. 61
31369189 2019
24
Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians. 61
31864384 2019
25
Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy. 61
31878136 2019
26
Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration. 61
30979730 2019
27
Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine. 61
31639339 2019
28
Generation of human induced pluripotent stem cell lines from a patient with ITM2B-related retinal dystrophy and a non mutated brother. 61
31731182 2019
29
CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric Study. 61
31734136 2019
30
RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy 61
31725251 2019
31
LONG-TERM VISUAL ACUITY PRESERVATION IN SORSBY FUNDUS DYSTROPHY WITH CORTICOSTEROID TREATMENT. 61
31764885 2019
32
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options. 61
31704701 2019
33
Sorsby Fundus Dystrophy Mutation in Tissue Inhibitor of Metalloproteinase 3 (TIMP3) promotes Choroidal Neovascularization via a Fibroblast Growth Factor-dependent Mechanism. 61
31757977 2019
34
Whole-exome sequencing provides insights into monogenic disease prevalence in Northwest Russia. 61
31482689 2019
35
Expanding the Genetic Landscape of Usher-Like Phenotypes. 61
31725169 2019
36
CHOROIDEREMIA: Retinal Degeneration With an Unmet Need. 61
31021898 2019
37
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan. 61
31173343 2019
38
Diffuse Outer Layer Opacification: A Novel Finding in Patients With Autosomal Recessive Bestrophinopathy. 61
31789649 2019
39
Development of a Gene Therapy Vector for RDH12-Associated Retinal Dystrophy. 61
31237438 2019
40
The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype. 61
31718697 2019
41
PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES. 61
31725702 2019
42
Causes of blindness in a pediatric age group at a tertiary healthcare center in the eastern province of Saudi Arabia. 61
31588488 2019
43
Retinal dystrophy associated with a Kizuna (KIZ) mutation and a predominantly macular phenotype. 61
31556760 2019
44
Presence of corneal crystals confirms an unusual presentation of Bietti's retinal dystrophy. 61
31638456 2019
45
Knocking out lca5 in zebrafish causes cone-rod dystrophy due to impaired outer segment protein trafficking. 61
31348989 2019
46
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. 61
31630094 2019
47
A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants. 61
30926958 2019
48
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY. 61
30134391 2019
49
A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation. 61
31750392 2019
50
Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations. 61
31494449 2019

Variations for Fundus Dystrophy

ClinVar genetic disease variations for Fundus Dystrophy:

6 (show top 50) (show all 404) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DRAM2 NM_178454.5(DRAM2):c.494G>A (p.Trp165Ter)SNV Pathogenic 192239 rs201422368 1:111663161-111663161 1:111120539-111120539
2 DRAM2 NM_178454.5(DRAM2):c.362A>T (p.His121Leu)SNV Pathogenic 192237 rs786205664 1:111663293-111663293 1:111120671-111120671
3 DRAM2 NM_178454.5(DRAM2):c.217_225del (p.Val73_Tyr75del)deletion Pathogenic 192236 rs786205663 1:111667478-111667486 1:111124856-111124864
4 DRAM2 NM_178454.5(DRAM2):c.140del (p.Gly47fs)deletion Pathogenic 192233 rs746559651 1:111668908-111668908 1:111126286-111126286
5 DRAM2 NM_178454.5(DRAM2):c.131G>A (p.Ser44Asn)SNV Pathogenic 192238 rs786205665 1:111674046-111674046 1:111131424-111131424
6 DRAM2 NM_178454.5(DRAM2):c.79T>C (p.Tyr27His)SNV Pathogenic 192235 rs786205662 1:111674098-111674098 1:111131476-111131476
7 DRAM2 NM_178454.5(DRAM2):c.61_63GCT[1] (p.Ala22del)short repeat Pathogenic 192234 rs786205661 1:111674111-111674113 1:111131489-111131491
8 USH2A NM_206933.3(USH2A):c.13374del (p.Glu4458fs)deletion Pathogenic 166428 rs727503715 1:215847879-215847879 1:215674537-215674537
9 PROM1 NM_001145847.2(PROM1):c.1148_1149AT[1] (p.Ile384fs)short repeat Pathogenic 208605 rs746174328 4:16010695-16010696 4:16009072-16009073
10 PRPF31 NM_015629.4(PRPF31):c.1120C>T (p.Gln374Ter)SNV Pathogenic 224758 rs869312187 19:54631726-54631726 19:54128351-54128351
11 RPGR NM_000328.3(RPGR):c.1905+23C>GSNV Pathogenic 224756 rs869312185 X:38146324-38146324 X:38287071-38287071
12 BBS10 NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)SNV Pathogenic 225010 rs768933093 12:76741994-76741994 12:76348214-76348214
13 PDE6B NM_000283.3(PDE6B):c.291C>A (p.Tyr97Ter)SNV Pathogenic 228390 rs876657718 4:619706-619706 4:625917-625917
14 FAM161A NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)SNV Pathogenic 36 rs200691042 2:62066830-62066830 2:61839695-61839695
15 FAM161A NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter)SNV Pathogenic 38 rs202193201 2:62066572-62066572 2:61839437-61839437
16 IQCB1 NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)SNV Pathogenic 1830 rs121918244 3:121500619-121500619 3:121781772-121781772
17 RDH12 NM_152443.3(RDH12):c.806_810del (p.Ala269fs)deletion Pathogenic 2047 rs386834261 14:68196054-68196058 14:67729337-67729341
18 CERKL NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)SNV Pathogenic 2364 rs121909398 2:182423344-182423344 2:181558617-181558617
19 BBS2 NM_031885.4(BBS2):c.646C>T (p.Arg216Ter)SNV Pathogenic 4583 rs121908180 16:56540103-56540103 16:56506191-56506191
20 ABCA4 NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)SNV Pathogenic 7907 rs61751383 1:94471056-94471056 1:94005500-94005500
21 GUCY2D NM_000180.3(GUCY2D):c.2513G>A (p.Arg838His)SNV Pathogenic 9357 rs61750173 17:7918019-7918019 17:8014701-8014701
22 RS1 NM_003159.2(CDKL5):c.2797+1123G>ASNV Pathogenic 9887 rs61752067 X:18665333-18665333 X:18647213-18647213
23 RP2 NM_006915.3(RP2):c.358C>T (p.Arg120Ter)SNV Pathogenic 10551 rs104894927 X:46713166-46713166 X:46853731-46853731
24 BBS1 NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)SNV Pathogenic 12143 rs113624356 11:66293652-66293652 11:66526181-66526181
25 CRB1 NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)SNV Pathogenic 39614 rs62645748 1:197403836-197403836 1:197434706-197434706
26 KCNV2 NM_133497.4(KCNV2):c.8_11del (p.Lys3fs)deletion Pathogenic 39810 rs786205121 9:2717745-2717748 9:2717745-2717748
27 PROM1 NM_001145847.2(PROM1):c.1699C>T (p.Gln567Ter)SNV Pathogenic 5609 rs137853005 4:15995651-15995651 4:15994028-15994028
28 PROM1 NM_001145847.2(PROM1):c.1090C>T (p.Arg364Cys)SNV Pathogenic 5610 rs137853006 4:16014922-16014922 4:16013299-16013299
29 CRB1 NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)SNV Pathogenic 5736 rs137853137 1:197396856-197396856 1:197427726-197427726
30 ABCA4 NM_000350.3(ABCA4):c.5461-10T>CSNV Pathogenic 92870 rs1800728 1:94476951-94476951 1:94011395-94011395
31 EYS NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter)SNV Pathogenic 93621 rs398123575 6:64574212-64574212 6:63864319-63864319
32 RPE65 NM_000329.3(RPE65):c.11+5G>ASNV Pathogenic 98825 rs61751276 1:68915573-68915573 1:68449890-68449890
33 CEP290 NM_025114.3(CEP290):c.5493delA (p.Ala1832Profs)deletion Pathogenic 56739 rs386834158 12:88471567-88471567 12:88077790-88077790
34 ABCA4 NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)SNV Pathogenic 99084 rs61749409 1:94528266-94528266 1:94062710-94062710
35 ABCA4 NM_000350.3(ABCA4):c.3303G>A (p.Trp1101Ter)SNV Pathogenic 99218 rs61752419 1:94508342-94508342 1:94042786-94042786
36 ABCA4 NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)SNV Pathogenic 99260 rs61750135 1:94496583-94496583 1:94031027-94031027
37 ABCA4 NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)SNV Pathogenic 99288 rs61751402 1:94495071-94495071 1:94029515-94029515
38 ABCA4 NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)SNV Pathogenic 99331 rs61751403 1:94486895-94486895 1:94021339-94021339
39 ABCA4 NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp)SNV Pathogenic 99371 rs61751406 1:94480178-94480178 1:94014622-94014622
40 ABCA4 NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)deletion Pathogenic 99419 rs61751389 1:94473278-94473278 1:94007722-94007722
41 ABCA4 NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)SNV Pathogenic 99460 rs61750654 1:94466426-94466426 1:94000870-94000870
42 PROM1 NM_001145847.2(PROM1):c.1530C>A (p.Tyr510Ter)SNV Pathogenic 100577 rs137853907 4:16002140-16002140 4:16000517-16000517
43 ABCA4 NM_000350.3(ABCA4):c.4773+3A>GSNV Pathogenic 236122 rs759672616 1:94487399-94487399 1:94021843-94021843
44 ABCA4 NM_000350.3(ABCA4):c.4253+5G>ASNV Pathogenic 236110 rs61750138 1:94496547-94496547 1:94030991-94030991
45 USH2A NM_206933.3(USH2A):c.11549-1G>ASNV Pathogenic 236536 rs878853407 1:215914880-215914880 1:215741538-215741538
46 LRAT NM_004744.5(LRAT):c.473G>A (p.Trp158Ter)SNV Pathogenic 236451 rs878853351 4:155665951-155665951 4:154744799-154744799
47 EYS NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)SNV Pathogenic 236447 rs143994166 6:66112400-66112400 6:65402507-65402507
48 RP1 NM_006269.2(RP1):c.2749C>T (p.Gln917Ter)SNV Pathogenic 236414 rs878853326 8:55539191-55539191 8:54626631-54626631
49 CDH23 NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter)SNV Pathogenic 236430 rs878853337 10:73565598-73565598 10:71805841-71805841
50 MYO7A NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter)SNV Pathogenic 236487 rs878853378 11:76885842-76885842 11:77174796-77174796

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 9.91 USH2A RPGR LCA5 EYS CEP290 BBS1
2 microtubule organizing center GO:0005815 9.8 RPGR LCA5 EYS CEP290 BBS1
3 cilium GO:0005929 9.77 RPGR LCA5 EYS CEP290 BBS1
4 photoreceptor connecting cilium GO:0032391 9.5 USH2A LCA5 CEP290
5 photoreceptor inner segment GO:0001917 9.46 USH2A RDH12 CRB1 CERKL
6 photoreceptor disc membrane GO:0097381 9.43 PDE6B GUCY2D ABCA4
7 ciliary basal body GO:0036064 9.35 USH2A RPGR LCA5 CEP290 BBS1
8 photoreceptor outer segment GO:0001750 9.1 RPGR PRPH2 GUCY2D EYS CERKL ABCA4

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

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.77 USH2A RS1 RPGR RPE65 RDH12 PDE6B
2 photoreceptor cell maintenance GO:0045494 9.63 USH2A RDH12 LCA5 CDHR1 BBS1 ABCA4
3 retina development in camera-type eye GO:0060041 9.62 RPE65 PRPH2 PDE6B NR2E3
4 retinol metabolic process GO:0042572 9.61 RPE65 RDH12 LRAT
5 detection of light stimulus involved in visual perception GO:0050908 9.58 RPE65 EYS BEST1
6 retinoid metabolic process GO:0001523 9.56 RPE65 RDH12 LRAT ABCA4
7 eye photoreceptor cell development GO:0042462 9.54 NR2E3 CRB1 CEP290
8 phototransduction, visible light GO:0007603 9.48 PDE6B ABCA4
9 visual perception GO:0007601 9.47 USH2A RS1 RPGR RPE65 RDH12 PRPH2
10 vitamin A metabolic process GO:0006776 9.46 RPE65 LRAT

Sources for Fundus Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
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68 SNOMED-CT via HPO
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