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MCID: FND002
MIFTS: 55

Fundus Dystrophy

Categories: Eye diseases, Neuronal diseases
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Genes Variations Tissues Related diseases Publications Drugs
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Aliases & Classifications for Fundus Dystrophy

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MalaCards integrated aliases for Fundus Dystrophy:

Name: Fundus Dystrophy 11 14
Retinal Dystrophy 11 28 5
Retinal Dystrophies 43 71
Dystrophy, Retinal 38

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases Eye diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 11 DOID:8501
MeSH 43 D058499
NCIt 49 C35625
SNOMED-CT 68 314407005
UMLS 71 C0854723
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Summaries for Fundus Dystrophy

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MalaCards based summary: Fundus Dystrophy, also known as retinal dystrophy, is related to senior-loken syndrome 1 and leber plus disease. An important gene associated with Fundus Dystrophy is TIMP3 (TIMP Metallopeptidase Inhibitor 3), and among its related pathways/superpathways are Visual phototransduction and Ciliopathies. The drugs Cysteine and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, retina and eye, and related phenotypes are nervous system and pigmentation
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Related Diseases for Fundus Dystrophy

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

(show top 50) (show all 699)
# Related Disease Score Top Affiliating Genes
1 senior-loken syndrome 1 34.5 USH2A TULP1 SPATA7 RPGR RPE65 RHO
2 leber plus disease 34.4 USH2A TULP1 SPATA7 RPGR RPE65 RLBP1
3 hereditary retinal dystrophy 34.2 USH2A TIMP3 SPATA7 RPE65 RLBP1 RHO
4 sorsby fundus dystrophy 34.0 TIMP3 RHO BEST1 ABCA4
5 retinoschisis 1, x-linked, juvenile 34.0 USH2A RPGR RPE65 RLBP1 RHO PRPH2
6 doyne honeycomb retinal dystrophy 34.0 TIMP3 RLBP1 PRPH2 CRB1 BEST1 ABCA4
7 joubert syndrome 1 34.0 USH2A TULP1 SPATA7 RPGR RPE65 RHO
8 fundus albipunctatus 33.9 USH2A TULP1 RPGR RPE65 RLBP1 RHO
9 bardet-biedl syndrome 33.8 USH2A TULP1 SPATA7 RPGR RPE65 RHO
10 stargardt disease 1 33.8 TULP1 RDH12 PRPH2 EYS CRX CRB1
11 severe early-childhood-onset retinal dystrophy 33.7 SPATA7 RPE65 CNGB3 ABCA4
12 leber congenital amaurosis 10 33.6 USH2A TULP1 SPATA7 RPGR RPE65 RHO
13 stargardt disease 33.6 USH2A TULP1 SPATA7 RPGR RPE65 RLBP1
14 leber congenital amaurosis 14 33.5 TULP1 SPATA7 RPE65 RDH12 AIPL1
15 leber congenital amaurosis 4 33.5 TULP1 SPATA7 RPE65 RDH12 PRPH2 GUCY2D
16 usher syndrome 33.4 USH2A TULP1 SPATA7 RPGR RPE65 RLBP1
17 macular degeneration, age-related, 1 33.4 USH2A TIMP3 RPGR RPE65 RLBP1 RHO
18 gyrate atrophy of choroid and retina 33.3 USH2A RPGR RPE65 RLBP1 RHO RDH12
19 leber congenital amaurosis 3 33.3 TULP1 SPATA7 RPE65 RDH12 GUCY2D CRX
20 macular dystrophy, dominant cystoid 33.2 USH2A RPGR RPE65 RHO NR2E3 CRB1
21 bestrophinopathy, autosomal recessive 33.2 RPGR RPE65 RLBP1 PRPH2 CRB1 CNGB3
22 retinitis pigmentosa 33.1 USH2A TULP1 TIMP3 SPATA7 RPGR RPE65
23 occult macular dystrophy 33.1 RPGR PRPH2 GUCY2D EYS CRX CNGB3
24 blue cone monochromacy 33.1 RPGR PRPH2 GUCY2D EYS CNGB3 ABCA4
25 retinitis pigmentosa 39 33.0 USH2A RPGR RPE65 EYS CEP290 ABCA4
26 bietti crystalline corneoretinal dystrophy 32.9 USH2A RPGR RPE65 RLBP1 EYS ABCA4
27 leber congenital amaurosis 13 32.9 TULP1 SPATA7 RPE65 RDH12 AIPL1
28 night blindness 32.9 USH2A TULP1 TIMP3 RPGR RPE65 RLBP1
29 achromatopsia 32.9 USH2A TULP1 SPATA7 RPGR RPE65 RHO
30 leber congenital amaurosis 15 32.8 TULP1 SPATA7 RDH12 GUCY2D AIPL1
31 retinitis pigmentosa 26 32.8 TULP1 RPGR RHO EYS CNGB3
32 vitreoretinochoroidopathy 32.8 RPE65 RLBP1 PRPH2 BEST1 ABCA4
33 leber congenital amaurosis 2 32.8 TULP1 SPATA7 RPGR RPE65 RHO RDH12
34 retinitis pigmentosa 38 32.7 USH2A RPGR GUCY2D AIPL1
35 retinitis pigmentosa 25 32.7 USH2A RPGR EYS CNGB3
36 retinal degeneration 32.7 USH2A TULP1 TIMP3 SPATA7 RPGR RPE65
37 retinitis pigmentosa 7 32.7 RPE65 RHO PRPH2 ABCA4
38 cone-rod dystrophy 3 32.7 RPGR GUCY2D CRX ABCA4
39 retinitis pigmentosa 12 32.7 RPGR CRB1 AIPL1
40 retinitis pigmentosa 1 32.7 RHO PRPH2 NR2E3 CRX
41 retinitis pigmentosa 2 32.7 RPGR RHO CEP290
42 congenital stationary night blindness 32.6 USH2A TULP1 RPGR RPE65 RLBP1 RHO
43 retinitis pigmentosa 50 32.6 RPE65 RLBP1 BEST1
44 cone-rod dystrophy 2 32.6 USH2A TULP1 TIMP3 SPATA7 RPGR RPE65
45 cone-rod dystrophy 1 32.5 RPGR CNGB3
46 cone-rod dystrophy, x-linked, 1 32.5 RPGR BEST1 ABCA4
47 retinitis pigmentosa 20 32.5 RPE65 CNGB3
48 eye disease 32.5 USH2A TULP1 TIMP3 RPGR RPE65 RLBP1
49 cone dystrophy 32.5 USH2A TULP1 SPATA7 RPGR RPE65 RLBP1
50 leber congenital amaurosis 8 32.5 TULP1 SPATA7 RPE65 RDH12 GUCY2D CRX

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



Diseases related to Fundus Dystrophy
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Symptoms & Phenotypes for Fundus Dystrophy

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.14 ABCA4 AIPL1 BEST1 CEP290 CNGB3 CRB1
2 no effect GR00402-S-2 10.14 ABCA4 AIPL1 CEP290 CNGB3 CRB1 CRX

MGI Mouse Phenotypes related to Fundus Dystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.09 ABCA4 AIPL1 CEP290 CNGB3 CRB1 CRX
2 pigmentation MP:0001186 10.03 ABCA4 BEST1 CEP290 CRB1 CRX PRPH2
3 cellular MP:0005384 9.7 BEST1 CEP290 CNGB3 CRB1 NR2E3 PRPH2
4 vision/eye MP:0005391 9.6 ABCA4 AIPL1 BEST1 CEP290 CNGB3 CRB1
Sources

Drugs & Therapeutics for Fundus Dystrophy

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

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cysteine Approved, Nutraceutical Phase 2, Phase 3 52-90-4 594 5862
2 Pharmaceutical Solutions Phase 3
3
Brinzolamide Approved Phase 2 138890-62-7 68844
4
Acetazolamide Approved, Vet_approved Phase 2 59-66-5, 1424-27-7 1986
5
Ranibizumab Approved Phase 2 347396-82-1
6
Minocycline Approved, Investigational Phase 2 10118-90-8, 13614-98-7 54675783 5281021
7
Metformin Approved Phase 1, Phase 2 1115-70-4, 657-24-9 4091
8
Ethanol Approved Phase 1, Phase 2 64-17-5 702
9
Disulfiram Approved Phase 1, Phase 2 97-77-8 3117
10 Carbonic Anhydrase Inhibitors Phase 2
11 Angiogenesis Inhibitors Phase 2
12 Anti-Bacterial Agents Phase 2
13 Anti-Infective Agents Phase 2
14 Hypoglycemic Agents Phase 1, Phase 2
15
Acetic acid Approved Phase 1 64-19-7 176
16
Vitamin A Approved, Nutraceutical, Vet_approved Phase 1 22737-96-8, 68-26-8 5280382 445354
17
Zuretinol acetate Investigational Phase 1 127-47-9, 29584-22-3 10245972
18 Vitamins Phase 1
19 Adjuvants, Immunologic Phase 1
20 Trace Elements Phase 1
21 Micronutrients Phase 1
22 Immunologic Factors Phase 1
23 Retinol palmitate Phase 1
24 Protective Agents Phase 1

Interventional clinical trials:

(show all 43)
# Name Status NCT ID Phase Drugs
1 Brolucizumab-dbll (BEOVU®) Intravitreal Injection in the Treatment of Dystrophy-related Macular Neovascular Degeneration Recruiting NCT04690062 Phase 4 Brolucizumab-Dbll
2 Management of Retinitis Pigmentosa by Wharton's Jelly Derived Mesenchymal Stem Cells: Preliminary Clinical Results Completed NCT04224207 Phase 3
3 An Open-Label, Dose Escalation and Double-Masked, Randomized, Controlled Study to Evaluate the Safety and Tolerability of Sepofarsen in Pediatric Subjects <8 Years of Age With Leber Congenital Amaurosis Type 10 (LCA10) Due to the c.2991 +1655A>G (p.Cys998X) Mutation. Recruiting NCT04855045 Phase 2, Phase 3 sepofarsen
4 An Open-label, Single-arm Study to Provide Efficacy and Safety Data of Voretigene Neparvovec Administered as Subretinal Injection in Japanese Patients With Biallelic RPE65 Mutation-associated Retinal Dystrophy Active, not recruiting NCT04516369 Phase 3
5 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
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 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
8 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
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 Oral Metformin for Treatment of ABCA4 Retinopathy Recruiting NCT04545736 Phase 1, Phase 2 Metformin hydrochloride
11 Open-Label, Single Ascending Dose Study to Evaluate the Safety, Tolerability, and Efficacy of 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") Active, not recruiting NCT03872479 Phase 1, Phase 2 EDIT-101
12 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 Active, not recruiting NCT04123626 Phase 1, Phase 2 QR-1123
13 A Phase 2b Randomized, Double-Masked, Sham-Controlled, Study to Evaluate the Efficacy and Safety of Intravitreal Injection of vMCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE] Active, not recruiting NCT04945772 Phase 2
14 A Cross-over Randomized Control Trial to Evaluate the Retinaldehyde Dehydrogenase Inhibitor, Disulfiram, in Improving Retinal Sensitivity in Eyes Affected by Inherited Retinal Degeneration Not yet recruiting NCT05626920 Phase 1, Phase 2 Disulfiram 250 mg;Placebo
15 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)
16 Establishment of the National Registry for Inherited Retinal Dystrophy in Iran Unknown status NCT04131400
17 Objective Perimetry in Normal Subjects,Glaucoma Patients and Retinal Dystrophy Patients Unknown status NCT02014389
18 Bone Marrow Derived Stem Cell Ophthalmology Treatment Study Unknown status NCT01920867
19 Observational, Follow-up Study of Adaptive Optics Retinal Imaging in Controls and During Retinal or General Diseases Unknown status NCT01546181
20 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
21 Study on the Effects of Mutations Under Inherited Retinal Disease in Korean Completed NCT03613948
22 Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal Dystrophy Completed NCT02670980
23 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
24 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
25 Combined Coaxial Optical Coherence Tomography System to Image the Retina and Choroidal Structures and Estimate Tissue Reflectivity in Healthy and Diseased Retinas Completed NCT03843840
26 Optical Head-Mounted Display Technology for Low Vision Rehabilitation Completed NCT02983305
27 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
28 A Natural History and Outcome Measure Discovery Study of PRPF31 Mutation-Associated Retinal Dystrophy Recruiting NCT05573984
29 Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR) Recruiting NCT03349242
30 A Phase 0 Study to Evaluate DF-003 in ex Vivo Assays Using Peripheral Blood Mononuclear Cells (PBMC) From Subjects With Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis and Headache (ROSAH) Syndrome. Recruiting NCT05319132
31 Functional Study of Intronic Variants in Inherited Cone Disorders Recruiting NCT04658251
32 Investigation of Retinal Pathology in Eye Diseases Using High Resolution Optical Coherence Tomography (High-Res-OCT) Recruiting NCT05130385
33 Multi-center Observation of the Natural Course of Inherited Retinal Dystrophies Recruiting NCT03691168
34 iPS Cells of Patients for Models of Retinal Dystrophies Recruiting NCT03853252
35 VIsual Cerebral ConnecTivity On Functional Magnetic Resonance Imaging in Patients With Hereditary REtinal Dystrophies Recruiting NCT04648124
36 Prospective Analysis of "Genotype-phenotype" Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD Recruiting NCT03662386
37 Qualification for Cone-Optogenetics (EyeConic) Recruiting NCT05294978
38 Performance of Optimized Long-wavelength Fundus Autofluorescence Imaging in Patients With Retinal Diseases Recruiting NCT03592017
39 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) Active, not recruiting NCT02946879
40 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
41 A Post-Authorization, Multicenter, Longitudinal, Observational Safety Registry Study for Patients Treated With Voretigene Neparvovec in US Active, not recruiting NCT03597399
42 Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants Not yet recruiting NCT05589714
43 Impact on Daily Life of Patients Using the Subretinal Implant RETINA IMPLANT Alpha AMS Terminated NCT03561922

Search NIH Clinical Center for Fundus Dystrophy

Cochrane evidence based reviews: retinal dystrophies

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Genetic Tests for Fundus Dystrophy

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Genetic tests related to Fundus Dystrophy:

# Genetic test Affiliating Genes
1 Retinal Dystrophy 28
Sources

Anatomical Context for Fundus Dystrophy

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Organs/tissues related to Fundus Dystrophy:

MalaCards : Bone Marrow, Retina, Eye, Bone, Brain, Kidney, Pituitary
Sources

Publications for Fundus Dystrophy

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Articles related to Fundus Dystrophy:

(show top 50) (show all 1996)
# Title Authors PMID Year
1
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 62 5
30718709 2019
2
Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. 62 5
25356976 2015
3
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. 62 5
23946133 2013
4
High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy. 62 5
22025579 2011
5
Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans. 62 5
20087419 2010
6
A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation. 62 5
18599565 2008
7
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy. 62 5
18055820 2007
8
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 62 5
15258582 2004
9
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. 62 5
9326941 1997
10
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
11
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease. 5
31836858 2020
12
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 5
26872967 2016
13
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. 5
26103963 2015
14
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. 5
25412400 2015
15
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms. 5
25307992 2015
16
Clinical and molecular characteristics of childhood-onset Stargardt disease. 5
25312043 2015
17
Genetic and clinical analysis of ABCA4-associated disease in African American patients. 5
25066811 2014
18
Prph2 mutations as a cause of electronegative ERG. 5
24608669 2014
19
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. 5
24154662 2014
20
Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis. 5
25333361 2014
21
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. 5
23918662 2013
22
ABCA4 gene screening by next-generation sequencing in a British cohort. 5
23982839 2013
23
Autosomal recessive bestrophinopathy: differential diagnosis and treatment options. 5
23290749 2013
24
Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy. 5
22229821 2012
25
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3. 5
22938382 2012
26
Next-generation genetic testing for retinitis pigmentosa. 5
22334370 2012
27
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response. 5
21882291 2011
28
Analysis of the ABCA4 gene by next-generation sequencing. 5
21911583 2011
29
Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. 5
20591486 2010
30
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. 5
20673862 2010
31
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. 5
20398886 2010
32
Cone-rod dystrophy and a frameshift mutation in the PROM1 gene. 5
19718270 2009
33
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. 5
19479962 2009
34
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. 5
18654668 2008
35
A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration. 5
18978954 2008
36
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. 5
17405132 2007
37
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 5
17564967 2007
38
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). 5
17033958 2006
39
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. 5
15723066 2005
40
The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. 5
15614537 2005
41
Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). 5
14681825 2004
42
X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. 5
12657579 2003
43
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 5
12118255 2002
44
Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1). 5
11594993 2001
45
Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies. 5
11565546 2001
46
An analysis of allelic variation in the ABCA4 gene. 5
11328725 2001
47
Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4). 5
11379881 2001
48
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. 5
10958763 2000
49
Genetic basis of total colourblindness among the Pingelapese islanders. 5
10888875 2000
50
Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. 5
10775529 2000
Sources

Variations for Fundus Dystrophy

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ClinVar genetic disease variations for Fundus Dystrophy:

5 (show top 50) (show all 3048)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PROM1 NM_006017.3(PROM1):c.1726C>T (p.Gln576Ter) SNV Pathogenic
 5609 rs137853005 GRCh37: 4:15995651-15995651
GRCh38: 4:15994028-15994028
2 RPGR NM_001034853.2(RPGR):c.1928C>G (p.Ser643Ter) SNV Pathogenic
 224756 rs869312185 GRCh37: X:38146324-38146324
GRCh38: X:38287071-38287071
3 DRAM2 NM_001349884.2(DRAM2):c.217_225del (p.Val73_Tyr75del) DEL Pathogenic
 192236 rs786205663 GRCh37: 1:111667478-111667486
GRCh38: 1:111124856-111124864
4 DRAM2 NM_001349884.2(DRAM2):c.79T>C (p.Tyr27His) SNV Pathogenic
 192235 rs786205662 GRCh37: 1:111674098-111674098
GRCh38: 1:111131476-111131476
5 PROM1 NM_006017.3(PROM1):c.730C>T (p.Arg244Ter) SNV Pathogenic
 438215 rs373331232 GRCh37: 4:16025003-16025003
GRCh38: 4:16023380-16023380
6 ABHD12 NM_001042472.3(ABHD12):c.193C>T (p.Arg65Ter) SNV Pathogenic
 438130 rs758316679 GRCh37: 20:25319986-25319986
GRCh38: 20:25339350-25339350
7 ABCA4 NM_000350.3(ABCA4):c.1557C>A (p.Cys519Ter) SNV Pathogenic
 438088 rs1553192726 GRCh37: 1:94528871-94528871
GRCh38: 1:94063315-94063315
8 PCARE NM_001029883.3(PCARE):c.758G>A (p.Trp253Ter) SNV Pathogenic
 438049 rs750987123 GRCh37: 2:29296370-29296370
GRCh38: 2:29073504-29073504
9 PROM1 NM_006017.3(PROM1):c.436C>T (p.Arg146Ter) SNV Pathogenic
 438214 rs780697796 GRCh37: 4:16035000-16035000
GRCh38: 4:16033377-16033377
10 BEST1 NM_004183.4(BEST1):c.-37+1G>T SNV Pathogenic
 438184 rs1555096248 GRCh37: 11:61717900-61717900
GRCh38: 11:61950428-61950428
11 ABCA4 NM_000350.3(ABCA4):c.3303G>A (p.Trp1101Ter) SNV Pathogenic
 99218 rs61752419 GRCh37: 1:94508342-94508342
GRCh38: 1:94042786-94042786
12 ABCA4 NM_000350.3(ABCA4):c.885del (p.Leu296fs) DEL Pathogenic
 438109 rs764759172 GRCh37: 1:94546248-94546248
GRCh38: 1:94080692-94080692
13 RGR NM_001012720.2(RGR):c.*74dup DUP Pathogenic
 438065 rs1554824273 GRCh37: 10:86018468-86018469
GRCh38: 10:84258712-84258713
14 BEST1 NM_004183.4(BEST1):c.418C>G (p.Leu140Val) SNV Pathogenic
 2750 rs267606678 GRCh37: 11:61723360-61723360
GRCh38: 11:61955888-61955888
15 EYS NM_001142800.1:c.(2023+1_2024-1)_(3443+1_3444-1)del DEL Pathogenic
 636132 GRCh37:
GRCh38:
16 PRPF31-AS1, PRPF31 NM_015629.4(PRPF31):c.636del (p.Met212fs) DEL Pathogenic
 865753 rs2073855020 GRCh37: 19:54627236-54627236
GRCh38: 19:54123857-54123857
17 CNGB1 NM_001297.5(CNGB1):c.1373-1G>A SNV Pathogenic
 865777 rs1961362638 GRCh37: 16:57965783-57965783
GRCh38: 16:57931879-57931879
18 ABCA4 NM_000350.3(ABCA4):c.5282C>G (p.Pro1761Arg) SNV Pathogenic
 377405 rs1057520212 GRCh37: 1:94481325-94481325
GRCh38: 1:94015769-94015769
19 RPGR NM_001034853.2(RPGR):c.2412_2413del (p.Glu806fs) MICROSAT Pathogenic
 865786 rs2067182636 GRCh37: X:38145839-38145840
GRCh38: X:38286586-38286587
20 RPGR NM_001034853.2(RPGR):c.934+1G>A SNV Pathogenic
 98812 rs62640592 GRCh37: X:38163887-38163887
GRCh38: X:38304634-38304634
21 PRPF8 NM_006445.4(PRPF8):c.6926A>C (p.His2309Pro) SNV Pathogenic
 3356 rs121434236 GRCh37: 17:1554178-1554178
GRCh38: 17:1650884-1650884
22 RPGR NM_001034853.2(RPGR):c.2714_2715del (p.Glu905fs) DEL Pathogenic
 865798 rs2067160273 GRCh37: X:38145537-38145538
GRCh38: X:38286284-38286285
23 CRX NM_000554.6(CRX):c.239A>G (p.Glu80Gly) SNV Pathogenic
 865803 rs104894671 GRCh37: 19:48339638-48339638
GRCh38: 19:47836381-47836381
24 USH2A NM_206933.4(USH2A):c.8681G>A (p.Arg2894Lys) SNV Pathogenic
 495329 rs1369414978 GRCh37: 1:216051100-216051100
GRCh38: 1:215877758-215877758
25 RPGR NM_001034853.2(RPGR):c.934+1G>T SNV Pathogenic
 865818 rs62640592 GRCh37: X:38163887-38163887
GRCh38: X:38304634-38304634
26 PRPH2 NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr) SNV Pathogenic
 191208 rs786205579 GRCh37: 6:42689576-42689576
GRCh38: 6:42721838-42721838
27 PDE6B NM_000283.4(PDE6B):c.385G>A (p.Glu129Lys) SNV Pathogenic
 636062 rs749657417 GRCh37: 4:619800-619800
GRCh38: 4:626011-626011
28 RPGR NM_001034853.2(RPGR):c.2516_2520del (p.Glu839fs) DEL Pathogenic
 865886 rs2067176379 GRCh37: X:38145732-38145736
GRCh38: X:38286479-38286483
29 RPGR NM_001034853.2(RPGR):c.154G>A (p.Gly52Arg) SNV Pathogenic
 593841 rs281865296 GRCh37: X:38182652-38182652
GRCh38: X:38323399-38323399
30 OPA1 NM_130837.3(OPA1):c.2635C>T (p.Arg879Ter) SNV Pathogenic
 225121 rs879255593 GRCh37: 3:193380725-193380725
GRCh38: 3:193662936-193662936
31 USH2A NM_206933.4(USH2A):c.98C>A (p.Ser33Ter) SNV Pathogenic
 865905 rs2039690812 GRCh37: 1:216595581-216595581
GRCh38: 1:216422239-216422239
32 ABCA4 NM_000350.3(ABCA4):c.6191C>T (p.Ala2064Val) SNV Pathogenic
 865907 rs1362964563 GRCh37: 1:94467505-94467505
GRCh38: 1:94001949-94001949
33 RPGR NM_001034853.2(RPGR):c.2548del (p.Glu850fs) DEL Pathogenic
 865913 rs2067174697 GRCh37: X:38145704-38145704
GRCh38: X:38286451-38286451
34 PRPF8 NM_006445.4(PRPF8):c.7000T>A (p.Tyr2334Asn) SNV Pathogenic
 865924 rs1193604660 GRCh37: 17:1554104-1554104
GRCh38: 17:1650810-1650810
35 KIZ NM_018474.6(KIZ):c.119_122del (p.Lys40fs) DEL Pathogenic
 128243 rs587777377 GRCh37: 20:21112767-21112770
GRCh38: 20:21132126-21132129
36 LRP5 NM_002335.4(LRP5):c.2718_2721del (p.Met907fs) DEL Pathogenic
 520844 rs1244761864 GRCh37: 11:68181369-68181372
GRCh38: 11:68413901-68413904
37 LRP5 NM_002335.4(LRP5):c.3232C>T (p.Arg1078Ter) SNV Pathogenic
 520845 rs765402802 GRCh37: 11:68191161-68191161
GRCh38: 11:68423693-68423693
38 MYO7A NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) SNV Pathogenic
 43325 rs111033486 GRCh37: 11:76867946-76867946
GRCh38: 11:77156900-77156900
39 RPGR NM_001034853.2(RPGR):c.2249_2253del (p.Glu750fs) MICROSAT Pathogenic
 865941 rs2067188031 GRCh37: X:38145999-38146003
GRCh38: X:38286746-38286750
40 ABCA4 NM_000350.3(ABCA4):c.4668-2A>G SNV Pathogenic
 865963 rs1659914923 GRCh37: 1:94487509-94487509
GRCh38: 1:94021953-94021953
41 USH2A NM_206933.4(USH2A):c.4384del (p.Thr1462fs) DEL Pathogenic
 865950 rs2034687946 GRCh37: 1:216363577-216363577
GRCh38: 1:216190235-216190235
42 ALMS1 NM_001378454.1(ALMS1):c.1008_1009del (p.Cys336_Asp337delinsTer) MICROSAT Pathogenic
 865951 rs1205704532 GRCh37: 2:73651799-73651800
GRCh38: 2:73424671-73424672
43 RPGR NM_001034853.2(RPGR):c.2340del (p.Ala781fs) DEL Pathogenic
 865990 rs2067185564 GRCh37: X:38145912-38145912
GRCh38: X:38286659-38286659
44 USH2A NM_206933.4(USH2A):c.13313G>A (p.Trp4438Ter) SNV Pathogenic
 48416 rs111033417 GRCh37: 1:215847940-215847940
GRCh38: 1:215674598-215674598
45 RP1L1 NM_178857.6(RP1L1):c.1189C>T (p.Arg397Ter) SNV Pathogenic
 865995 rs371886218 GRCh37: 8:10470419-10470419
GRCh38: 8:10612909-10612909
46 RPGR NM_001034853.2(RPGR):c.2867del (p.Glu956fs) DEL Pathogenic
 866004 rs2067146007 GRCh37: X:38145385-38145385
GRCh38: X:38286132-38286132
47 RP1 NM_006269.2(RP1):c.2200del (p.Ser734fs) DEL Pathogenic
 866005 rs1806036718 GRCh37: 8:55538639-55538639
GRCh38: 8:54626079-54626079
48 PRPF8 NM_006445.4(PRPF8):c.6926A>G (p.His2309Arg) SNV Pathogenic
 3355 rs121434236 GRCh37: 17:1554178-1554178
GRCh38: 17:1650884-1650884
49 RPGR NM_001034853.2(RPGR):c.2655_2656del (p.Glu886fs) DEL Pathogenic
 866097 rs2067164096 GRCh37: X:38145596-38145597
GRCh38: X:38286343-38286344
50 CDH3 NM_001793.6(CDH3):c.307C>T (p.Arg103Ter) SNV Pathogenic
 866071 rs1157108621 GRCh37: 16:68712097-68712097
GRCh38: 16:68678194-68678194
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Expression for Fundus Dystrophy

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Search GEO for disease gene expression data for Fundus Dystrophy.
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Pathways for Fundus Dystrophy

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Pathways related to Fundus Dystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Visual phototransduction 66
Show member pathways
 12.27 RPE65 RLBP1 RHO RDH12 GUCY2D ABCA4
2
Ciliopathies 74
11.67 TULP1 SPATA7 CRX CEP290
3
Retinol metabolism (TR) 22
Show member pathways
 11.23 RPE65 RHO RDH12
4
Diseases of the neuronal system 66
Show member pathways
 11.19 RPE65 RLBP1 RHO RDH12 ABCA4
5
Vitamin A and carotenoid metabolism 74
11.17 RPE65 RLBP1 RDH12
6
Visual Cycle in Retinal Rods 64
11.07 RPE65 RLBP1 RHO RDH12 GUCY2D CNGB3
7
Visual signal transduction: Cones 61
10.82 RPE65 RDH12 GUCY2D CNGB3
8
Retinol metabolism (WikiPathways) 74
10.69 RPE65 RDH12
Sources

GO Terms for Fundus Dystrophy

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

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body GO:0036064 10.03 USH2A SPATA7 RPGR CEP290
2 cell projection GO:0042995 9.93 ABCA4 CEP290 CRB1 EYS GUCY2D PRPH2
3 photoreceptor connecting cilium GO:0032391 9.85 USH2A SPATA7 CEP290
4 photoreceptor inner segment GO:0001917 9.8 USH2A TULP1 RHO RDH12 PRPH2 CRB1
5 photoreceptor disc membrane GO:0097381 9.73 RHO GUCY2D ABCA4
6 rod photoreceptor outer segment GO:0120200 9.71 SPATA7 RHO
7 photoreceptor inner segment membrane GO:0060342 9.62 RHO RDH12
8 photoreceptor outer segment GO:0001750 9.6 TULP1 SPATA7 RPGR RHO PRPH2 GUCY2D

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 10.21 ABCA4 AIPL1 BEST1 CNGB3 CRB1 CRX
2 detection of light stimulus involved in visual perception GO:0050908 10.03 TULP1 RPE65 PRPH2 EYS CRB1 BEST1
3 retina development in camera-type eye GO:0060041 10.02 TULP1 RPE65 RHO PRPH2 NR2E3 CRB1
4 photoreceptor cell maintenance GO:0045494 10 ABCA4 CRB1 RDH12 RHO SPATA7 TULP1
5 eye photoreceptor cell development GO:0042462 9.97 CEP290 CRB1 NR2E3 TULP1
6 retina homeostasis GO:0001895 9.93 TULP1 RPE65 AIPL1
7 retinoid metabolic process GO:0001523 9.91 RPE65 RDH12 ABCA4
8 phototransduction, visible light GO:0007603 9.88 RHO AIPL1 ABCA4
9 regulation of rhodopsin mediated signaling pathway GO:0022400 9.81 GUCY2D AIPL1
10 protein localization to photoreceptor outer segment GO:1903546 9.8 TULP1 SPATA7
11 vitamin A metabolic process GO:0006776 9.78 RPE65 RLBP1
12 retina morphogenesis in camera-type eye GO:0060042 9.71 RPE65 CRB1
13 sensory perception of light stimulus GO:0050953 9.7 USH2A RHO
14 response to stimulus GO:0050896 9.68 ABCA4 AIPL1 BEST1 CNGB3 CRX EYS

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

# Name GO ID Score Top Affiliating Genes
1 11-cis retinal binding GO:0005502 9.1 RLBP1 RHO ABCA4
Sources

Sources for Fundus Dystrophy

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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