Aliases & Classifications for Fundus Dystrophy

MalaCards integrated aliases for Fundus Dystrophy:

Name: Fundus Dystrophy 12 15
Retinal Dystrophy 12 29 6
Retinal Dystrophies 44 73
Dystrophy, Retinal 40

Classifications:



External Ids:

Disease Ontology 12 DOID:8501
MeSH 44 D058499
NCIt 50 C35625
SNOMED-CT 68 314407005
UMLS 73 C0854723

Summaries for Fundus Dystrophy

MalaCards based summary : Fundus Dystrophy, also known as retinal dystrophy, is related to severe early-childhood-onset retinal dystrophy 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 Organelle biogenesis and maintenance and Phototransduction. The drugs Lutein and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and retina, 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 81)
# Related Disease Score Top Affiliating Genes
1 severe early-childhood-onset retinal dystrophy 35.3 ABCA4 LCA5 RPE65
2 hereditary retinal dystrophy 35.3 CEP290 GUCY2D LCA5 RS1
3 cone-rod dystrophy 2 34.6 ABCA4 CDHR1 CERKL CRB1 EYS GUCY2D
4 senior-loken syndrome 1 34.5 CEP290 IQCB1 RPGR
5 macular degeneration, age-related, 1 31.7 ABCA4 BBS10 BEST1 CRB1 RPE65
6 retinitis 31.7 CERKL EYS RPGR
7 leber congenital amaurosis 4 31.2 GUCY2D RPE65
8 retinitis pigmentosa 30.9 ABCA4 BBS1 BBS10 BBS4 BEST1 CDHR1
9 sorsby fundus dystrophy 12.6
10 doyne honeycomb retinal dystrophy 12.4
11 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 12.3
12 retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities 12.3
13 bothnia retinal dystrophy 12.3
14 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 12.3
15 pseudoinflammatory fundus dystrophy 12.3
16 retinal dystrophy and obesity 12.3
17 retinal dystrophy with or without macular staphyloma 12.3
18 retinal dystrophy, juvenile cataracts, and short stature syndrome 12.2
19 retinal dystrophy with or without extraocular anomalies 12.1
20 retinal dystrophy, reticular pigmentary, of posterior pole 12.1
21 fundus dystrophy, pseudoinflammatory, recessive form 12.0
22 retinal dystrophy and iris coloboma with or without congenital cataract 11.9
23 macular dystrophy, retinal, 1, north carolina type 11.9
24 macular dystrophy, retinal, 3 11.9
25 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome 11.9
26 macular dystrophy, retinal, 2 11.9
27 retinal dystrophies primarily involving bruch's membrane 11.9
28 cone-rod dystrophy 16 11.8
29 retinal dystrophy in systemic or cerebroretinal lipidoses 11.8
30 x-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome 11.8
31 leber congenital amaurosis 14 11.7
32 retinal cone dystrophy 3a 11.5
33 retinal cone dystrophy 3b 11.5
34 leber congenital amaurosis 12 11.4 CEP290 GUCY2D RPE65
35 prolonged electroretinal response suppression 11.3 ABCA4 CDHR1 CRB1 GUCY2D
36 leber congenital amaurosis 9 11.3 CRB1 GUCY2D LCA5 RDH12 RPE65
37 retinoschisis 1, x-linked, juvenile 11.3 CRB1 RPE65 RPGR RS1
38 leber congenital amaurosis 10 11.3 CEP290 IQCB1 RPE65
39 bardet-biedl syndrome 14 11.3 BBS1 BBS10 CEP290
40 yemenite deaf-blind hypopigmentation syndrome 11.3 ABCA4 CEP290 GUCY2D RPE65 RPGR USH2A
41 bardet-biedl syndrome 6 11.3 BBS1 BBS10 BBS4
42 bardet-biedl syndrome 8 11.3 BBS1 BBS10 BBS4
43 retinitis pigmentosa 3 11.3 ABCA4 IQCB1 RPGR
44 achromatopsia 3 11.3 CRB1 GUCY2D RPE65
45 bardet-biedl syndrome 13 11.3 BBS1 BBS10 BBS4 CEP290
46 bardet-biedl syndrome 18 11.3 BBS1 BBS4 VPS13B
47 retinitis pigmentosa 26 11.3 CERKL GUCY2D RPGR
48 stargardt disease 11.3 ABCA4 CRB1 EYS RDH12 RPE65 RPGR
49 nonsyndromic retinitis pigmentosa 11.3 BBS1 USH2A
50 retinal degeneration 11.3 ABCA4 BEST1 CRB1 GUCY2D RPE65 RPGR

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 10.12 GUCY2D
2 Decreased viability GR00221-A-1 10.12 CERKL GUCY2D
3 Decreased viability GR00221-A-2 10.12 GUCY2D
4 Decreased viability GR00221-A-3 10.12 CERKL GUCY2D
5 Decreased viability GR00221-A-4 10.12 GUCY2D
6 Decreased viability GR00240-S-1 10.12 GUCY2D
7 Decreased viability GR00381-A-1 10.12 DRAM2
8 Decreased viability GR00402-S-2 10.12 CERKL CRB1 DRAM2 EYS GUCY2D IQCB1
9 no effect GR00402-S-1 9.62 ABCA4 BBS1 BBS10 BBS4 BEST1 CDHR1

MGI Mouse Phenotypes related to Fundus Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.97 BBS10 BBS4 CEP290 CRB1 GUCY2D LCA5
2 pigmentation MP:0001186 9.61 ABCA4 BBS4 BEST1 CEP290 CRB1 LCA5
3 vision/eye MP:0005391 9.53 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 110)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lutein Approved, Investigational, Nutraceutical Phase 3,Phase 1,Phase 2 127-40-2 6433159
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
3
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3,Phase 1 11103-57-4, 68-26-8 445354
4
Tocopherol Approved, Investigational, Nutraceutical Phase 3 1406-66-2 14986
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 Pharmaceutical Solutions Phase 3,Phase 1,Phase 2,Not Applicable
8 Central Nervous System Depressants Phase 3,Phase 2
9 Retinol palmitate Phase 3,Phase 1
10 Micronutrients Phase 3,Phase 2,Phase 1,Early Phase 1
11 Tocopherols Phase 3
12 Tocotrienols Phase 3
13 Trace Elements Phase 3,Phase 2,Phase 1,Early Phase 1
14 Vitamins Phase 3,Phase 2,Phase 1,Early Phase 1
15 Antihypertensive Agents Phase 3,Phase 1,Phase 2
16 Antioxidants Phase 3,Phase 2,Phase 1
17 Protective Agents Phase 3,Phase 2,Phase 1
18 Bone Density Conservation Agents Phase 3
19 Anesthetics Phase 3,Phase 2,Phase 1
20 Carotenoids Phase 2, Phase 3,Phase 1
21 Isopropyl unoprostone Phase 3
22 Tocotrienol Investigational, Nutraceutical Phase 3 6829-55-6
23 retinol Nutraceutical Phase 3,Phase 1
24
Ephedrine Approved Phase 1, Phase 2,Phase 2 299-42-3 9294
25
Pseudoephedrine Approved Phase 1, Phase 2,Phase 2 90-82-4 7028
26
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
27
Ciprofloxacin Approved, Investigational Phase 2,Phase 1 85721-33-1 2764
28
Minocycline Approved, Investigational Phase 1, Phase 2 10118-90-8 5281021
29
Iodine Approved, Investigational Phase 2,Phase 1 7553-56-2 807
30
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
31
Povidone-iodine Approved Phase 2,Phase 1 25655-41-8
32
Povidone Approved Phase 2,Phase 1 9003-39-8
33
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
34
Carbidopa Approved Phase 2 28860-95-9 34359 38101
35
Levodopa Approved Phase 2 59-92-7 6047
36
Adapalene Approved Phase 1, Phase 2 106685-40-9 60164
37 Dexamethasone acetate Phase 2 1177-87-3
38 glucocorticoids Phase 2
39
protease inhibitors Phase 2
40 Respiratory System Agents Phase 1, Phase 2,Phase 2
41 Mitogens Phase 1, Phase 2,Phase 2
42 Gastrointestinal Agents Phase 2
43 Nasal Decongestants Phase 1, Phase 2,Phase 2
44 Tetrahydrozoline Phase 1, Phase 2,Phase 2,Not Applicable
45 HIV Protease Inhibitors Phase 2
46 Hormone Antagonists Phase 2
47 Ophthalmic Solutions Phase 1, Phase 2,Phase 2,Not Applicable
48 Hormones Phase 2
49 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
50 Vasoconstrictor Agents Phase 1, Phase 2,Phase 2

Interventional clinical trials:

(show top 50) (show all 147)
# 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 and Safety Study of Bilateral Intravitreal Injection of GS010 for the Treatment of Vision Loss up to 1 Year From Onset in LHON Due to the ND4 Mutation Recruiting NCT03293524 Phase 3 Placebo
6 The Effect of Oral Administration of 9-cis β Carotene Rich Powder of the Alga Dunaliella Bardawil Recruiting NCT01680510 Phase 2, Phase 3
7 Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis Active, not recruiting NCT00999609 Phase 3
8 Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa Terminated NCT01786395 Phase 3 UF-021;Placebo
9 A Dose Ranging Study to Evaluate the Safety and Potential Efficacy of rhNGF in Patients With Retinitis Pigmentosa (RP) Unknown status NCT02110225 Phase 1, Phase 2 rhNGF 60 µg/ml eye drops solution;rhNGF 180 µg/ml eye drops solution;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 Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65 Completed NCT01496040 Phase 1, Phase 2 rAAV2/4.hRPE65
13 Safety Study of RPE65 Gene Therapy to Treat Leber Congenital Amaurosis Completed NCT00643747 Phase 1, Phase 2
14 Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01399515 Phase 2 Valproic Acid
15 DHA and X-Linked Retinitis Pigmentosa Completed NCT00100230 Phase 2 docosahexaenoic acid OR corn/soy oil placebo
16 Safety of a Single, Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Retinitis Pigmentosa Completed NCT02320812 Phase 1, Phase 2
17 Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01560715 Phase 2
18 Trial of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01233609 Phase 2 Valproic Acid;Placebo
19 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
20 A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa Completed NCT00447993 Phase 2 NT-501;NT-501
21 A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa Completed NCT00447980 Phase 2 NT-501;NT-501
22 Safety Study in Retinal Transplantation for Retinitis Pigmentosa. Completed NCT00345917 Phase 2
23 Effects of Lutein in Retinitis Pigmentosa Completed NCT00029289 Phase 1, Phase 2 Lutein (10 or 30 mg/day) capsules
24 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
25 Study of Oral Minocycline in Treating Bilateral Cystoid Macular Edema Associated With Retinitis Pigmentosa Completed NCT02140164 Phase 1, Phase 2 Minocycline
26 Clinical Trial of Gene Therapy for the Treatment of Leber Congenital Amaurosis (LCA) Recruiting NCT02781480 Phase 1, Phase 2
27 Safety and Efficacy Study in Patients With Retinitis Pigmentosa Due to Mutations in PDE6B Gene Recruiting NCT03328130 Phase 1, Phase 2
28 Safety and Efficacy of rAAV2tYF-GRK1-RPGR in Subjects With X-linked Retinitis Pigmentosa Caused by RPGR-ORF15 Mutations Recruiting NCT03316560 Phase 1, Phase 2
29 Gene Therapy for X-linked Retinitis Pigmentosa (XLRP) Retinitis Pigmentosa GTPase Regulator (RPGR) Recruiting NCT03252847 Phase 1, Phase 2
30 A Clinical Trial of Retinal Gene Therapy for X-linked Retinitis Pigmentosa Recruiting NCT03116113 Phase 1, Phase 2
31 Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa Recruiting NCT02837640 Phase 2 levodopa-carbidopa
32 RST-001 Phase I/II Trial for Advanced Retinitis Pigmentosa Recruiting NCT02556736 Phase 1, Phase 2 RST-001
33 Safety and Tolerability of hRPC in Retinitis Pigmentosa Recruiting NCT02464436 Phase 1, Phase 2 hRPC
34 Cone Rescue in Retinitis Pigmentosa by the Treatment of Lycium Barbarum Recruiting NCT02244996 Phase 2
35 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
36 Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B Recruiting NCT01505062 Phase 1, Phase 2
37 Saffron Supplementation in Stargardt's Disease Active, not recruiting NCT01278277 Phase 1, Phase 2
38 Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa Active, not recruiting NCT03073733 Phase 2
39 Autologous Bone Marrow-Derived CD34+, CD133+, and CD271+ Stem Cell Transplantation for Retinitis Pigmentosa Active, not recruiting NCT02709876 Phase 1, Phase 2
40 Electro-acupuncture and Transcorneal Electrical Stimulation (TES) for the Treatment of Vision Loss Due to Retinitis Pigmentosa Active, not recruiting NCT02086890 Phase 1, Phase 2
41 Argus® II Retinal Stimulation System Feasibility Protocol Active, not recruiting NCT00407602 Phase 2
42 Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study Active, not recruiting NCT02661711 Phase 2 Aflibercept
43 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
44 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
45 A First-in-human, Proof of Concept Study of CPK850 in Patients With RLBP1 Retinitis Pigmentosa Not yet recruiting NCT03374657 Phase 1, Phase 2
46 Dose-escalation Study to Evaluate the Safety and Tolerability of GS030 in Subjects With Retinitis Pigmentosa Not yet recruiting NCT03326336 Phase 1, Phase 2
47 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
48 Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS) Suspended NCT02338973 Phase 1, Phase 2 Interferon gamma-1b
49 Phase 1 Safety Study of ALK-001 in Healthy Volunteers Completed NCT02230228 Phase 1 ALK-001 (No generic name)
50 Investigating the Effect of Vitamin A Supplementation on Retinitis Pigmentosa Completed NCT00065455 Phase 1 Vitamin A

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:

41
Eye, Bone, Retina, Bone Marrow, Testes, Endothelial, Neutrophil

Publications for Fundus Dystrophy

Articles related to Fundus Dystrophy:

(show top 50) (show all 307)
# Title Authors Year
1
Treatment of cystoid macular edema in homozygous twins with glutathione synthetase deficiency and retinal dystrophy. ( 29395598 )
2018
2
Neuronal intranuclear hyaline inclusion disease presenting with childhood-onset night blindness associated with progressive retinal dystrophy. ( 29627037 )
2018
3
Deficiency of a Retinal Dystrophy Protein, Acyl-CoA Binding Domain-containing 5 (ACBD5), Impairs Peroxisomal I^-Oxidation of Very-long-chain Fatty Acids. ( 27899449 )
2017
4
Development of Refractive Errors-What Can We Learn From Inherited Retinal Dystrophies? ( 28751151 )
2017
5
Sorsby fundus dystrophy - A review of pathology and disease mechanisms. ( 28847738 )
2017
6
Heterozygous mutation in <i>OTX2</i> associated with early-onset retinal dystrophy with atypical maculopathy. ( 29204067 )
2017
7
Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers. ( 28752371 )
2017
8
Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions. ( 28689169 )
2017
9
In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases. ( 28044389 )
2017
10
Association of Steroid 5I+-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy. ( 28253385 )
2017
11
Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1. ( 28635423 )
2017
12
Mutations in the PCYT1A gene are responsible for isolated forms of retinal dystrophy. ( 28272537 )
2017
13
The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes. ( 28819299 )
2017
14
Bilateral choroidal neovascular membrane in a young patient with Sorsby fundus dystrophy: the value of prompt treatment. ( 28775088 )
2017
15
Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes. ( 28590779 )
2017
16
Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation. ( 28337834 )
2017
17
Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy. ( 27029556 )
2017
18
Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families. ( 28761320 )
2017
19
Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. ( 29186038 )
2017
20
Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy. ( 28586915 )
2017
21
Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype. ( 28369829 )
2017
22
Retinal capillaritis in a CRB1-associated retinal dystrophy. ( 28129017 )
2017
23
A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses. ( 28005406 )
2017
24
Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study. ( 28341475 )
2017
25
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. ( 27486781 )
2016
26
OCT angiography in the management of choroidal neovascular membrane secondary to Sorsby fundus dystrophy. ( 27587748 )
2016
27
Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations. ( 26906952 )
2016
28
Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy: Similarities to Age-Related Macular Degeneration and Potential Therapies. ( 26427406 )
2016
29
C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies. ( 26854863 )
2016
30
A Cost-Effective Mutation Screening Strategy for Inherited Retinal Dystrophies. ( 27160245 )
2016
31
Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe. ( 26593885 )
2016
32
Retinal Dystrophy in 6 Young Patients Who Presented with Intermediate Uveitis. ( 27157150 )
2016
33
Can Vitamin A be Improved to Prevent Blindness due to Age-Related Macular Degeneration, Stargardt Disease and Other Retinal Dystrophies? ( 26427432 )
2016
34
Hereditary Retinal Dystrophy. ( 28035529 )
2016
35
Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A&amp;gt;T, in PRPH2 and Protein Haplotypes in trans as Modifiers. ( 26842753 )
2016
36
Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants. ( 27113771 )
2016
37
A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium. ( 26744326 )
2016
38
Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy. ( 27102010 )
2016
39
Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy. ( 26957854 )
2016
40
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies. ( 26355662 )
2016
41
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140. ( 26968735 )
2016
42
Nephrocalcinosis and retinal dystrophy, rare manifestations of MPV17-related mitochondrial depletion syndrome? ( 27668186 )
2016
43
Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1. ( 27623334 )
2016
44
Retinal Dystrophy and Optic Nerve Pathology inA the Mouse Model of Mucolipidosis IV. ( 26608452 )
2016
45
Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant. ( 25363634 )
2015
46
Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) Gene. ( 24512366 )
2015
47
Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients. ( 25060287 )
2015
48
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma. ( 26056285 )
2015
49
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement. ( 25983245 )
2015
50
Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy. ( 25766589 )
2015

Variations for Fundus Dystrophy

ClinVar genetic disease variations for Fundus Dystrophy:

6
(show top 50) (show all 716)
# 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 CERKL NM_201548.4(CERKL): c.769C> T (p.Arg257Ter) single nucleotide variant Pathogenic rs121909398 GRCh37 Chromosome 2, 182423344: 182423344
10 CERKL NM_201548.4(CERKL): c.769C> T (p.Arg257Ter) single nucleotide variant Pathogenic rs121909398 GRCh38 Chromosome 2, 181558617: 181558617
11 PROM1 NM_006017.2(PROM1): c.1726C> T (p.Gln576Ter) single nucleotide variant Pathogenic rs137853005 GRCh37 Chromosome 4, 15995651: 15995651
12 PROM1 NM_006017.2(PROM1): c.1726C> T (p.Gln576Ter) single nucleotide variant Pathogenic rs137853005 GRCh38 Chromosome 4, 15994028: 15994028
13 PROM1 NM_006017.2(PROM1): c.1117C> T (p.Arg373Cys) single nucleotide variant Pathogenic rs137853006 GRCh37 Chromosome 4, 16014922: 16014922
14 PROM1 NM_006017.2(PROM1): c.1117C> T (p.Arg373Cys) single nucleotide variant Pathogenic rs137853006 GRCh38 Chromosome 4, 16013299: 16013299
15 ABCA4 NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs1800553 GRCh37 Chromosome 1, 94473807: 94473807
16 ABCA4 NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs1800553 GRCh38 Chromosome 1, 94008251: 94008251
17 ABCA4 NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val) single nucleotide variant Pathogenic/Likely pathogenic rs61751374 GRCh37 Chromosome 1, 94508969: 94508969
18 ABCA4 NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val) single nucleotide variant Pathogenic/Likely pathogenic rs61751374 GRCh38 Chromosome 1, 94043413: 94043413
19 ABCA4 NM_000350.2(ABCA4): c.6088C> T (p.Arg2030Ter) single nucleotide variant Pathogenic rs61751383 GRCh37 Chromosome 1, 94471056: 94471056
20 ABCA4 NM_000350.2(ABCA4): c.6088C> T (p.Arg2030Ter) single nucleotide variant Pathogenic rs61751383 GRCh38 Chromosome 1, 94005500: 94005500
21 GUCY2D NM_000180.3(GUCY2D): c.2513G> A (p.Arg838His) single nucleotide variant Pathogenic rs61750173 GRCh37 Chromosome 17, 7918019: 7918019
22 GUCY2D NM_000180.3(GUCY2D): c.2513G> A (p.Arg838His) single nucleotide variant Pathogenic rs61750173 GRCh38 Chromosome 17, 8014701: 8014701
23 RS1 NM_000330.3(RS1): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs61752067 GRCh37 Chromosome X, 18665333: 18665333
24 RS1 NM_000330.3(RS1): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs61752067 GRCh38 Chromosome X, 18647213: 18647213
25 RP2 NM_006915.2(RP2): c.358C> T (p.Arg120Ter) single nucleotide variant Pathogenic rs104894927 GRCh37 Chromosome X, 46713166: 46713166
26 RP2 NM_006915.2(RP2): c.358C> T (p.Arg120Ter) single nucleotide variant Pathogenic rs104894927 GRCh38 Chromosome X, 46853731: 46853731
27 BBS1 NM_024649.4(BBS1): c.1169T> G (p.Met390Arg) single nucleotide variant Pathogenic rs113624356 GRCh37 Chromosome 11, 66293652: 66293652
28 BBS1 NM_024649.4(BBS1): c.1169T> G (p.Met390Arg) single nucleotide variant Pathogenic rs113624356 GRCh38 Chromosome 11, 66526181: 66526181
29 CRB1 NM_201253.2(CRB1): c.2843G> A (p.Cys948Tyr) single nucleotide variant Pathogenic rs62645748 GRCh37 Chromosome 1, 197403836: 197403836
30 CRB1 NM_201253.2(CRB1): c.2843G> A (p.Cys948Tyr) single nucleotide variant Pathogenic rs62645748 GRCh38 Chromosome 1, 197434706: 197434706
31 KCNV2 NM_133497.3(KCNV2): c.8_11delAACA (p.Lys3Argfs) deletion Pathogenic rs786205121 GRCh37 Chromosome 9, 2717747: 2717750
32 KCNV2 NM_133497.3(KCNV2): c.8_11delAACA (p.Lys3Argfs) deletion Pathogenic rs786205121 GRCh38 Chromosome 9, 2717747: 2717750
33 MYO7A NM_000260.3(MYO7A): c.132+5G> A single nucleotide variant Likely pathogenic rs397516284 GRCh37 Chromosome 11, 76853873: 76853873
34 MYO7A NM_000260.3(MYO7A): c.132+5G> A single nucleotide variant Likely pathogenic rs397516284 GRCh38 Chromosome 11, 77142827: 77142827
35 VPS13B NM_017890.4(VPS13B): c.11314C> T (p.Gln3772Ter) single nucleotide variant Pathogenic rs386834061 GRCh37 Chromosome 8, 100880540: 100880540
36 VPS13B NM_017890.4(VPS13B): c.11314C> T (p.Gln3772Ter) single nucleotide variant Pathogenic rs386834061 GRCh38 Chromosome 8, 99868312: 99868312
37 CEP290 NM_025114.3(CEP290): c.5493delA (p.Ala1832Profs) deletion Pathogenic rs386834158 GRCh37 Chromosome 12, 88471567: 88471567
38 CEP290 NM_025114.3(CEP290): c.5493delA (p.Ala1832Profs) deletion Pathogenic rs386834158 GRCh38 Chromosome 12, 88077790: 88077790
39 CRB1 NM_201253.2(CRB1): c.1913C> T (p.Ser638Leu) single nucleotide variant Likely pathogenic rs267598278 GRCh38 Chromosome 1, 197421741: 197421741
40 CRB1 NM_201253.2(CRB1): c.1913C> T (p.Ser638Leu) single nucleotide variant Likely pathogenic rs267598278 NCBI36 Chromosome 1, 195657494: 195657494
41 CRB1 NM_201253.2(CRB1): c.1913C> T (p.Ser638Leu) single nucleotide variant Likely pathogenic rs267598278 GRCh37 Chromosome 1, 197390871: 197390871
42 ABCA4 NM_000350.2(ABCA4): c.5461-10T> C single nucleotide variant Pathogenic rs1800728 GRCh37 Chromosome 1, 94476951: 94476951
43 ABCA4 NM_000350.2(ABCA4): c.5461-10T> C single nucleotide variant Pathogenic rs1800728 GRCh38 Chromosome 1, 94011395: 94011395
44 EYS NM_001142800.1(EYS): c.7095T> G (p.Tyr2365Ter) single nucleotide variant Pathogenic rs398123575 GRCh37 Chromosome 6, 64574212: 64574212
45 EYS NM_001142800.1(EYS): c.7095T> G (p.Tyr2365Ter) single nucleotide variant Pathogenic rs398123575 GRCh38 Chromosome 6, 63864319: 63864319
46 RPE65 NM_000329.2(RPE65): c.11+5G> A single nucleotide variant Pathogenic rs61751276 GRCh37 Chromosome 1, 68915573: 68915573
47 RPE65 NM_000329.2(RPE65): c.11+5G> A single nucleotide variant Pathogenic rs61751276 GRCh38 Chromosome 1, 68449890: 68449890
48 ABCA4 NM_000350.2(ABCA4): c.1335C> G (p.Ser445Arg) single nucleotide variant Likely pathogenic rs61748552 GRCh37 Chromosome 1, 94544167: 94544167
49 ABCA4 NM_000350.2(ABCA4): c.1335C> G (p.Ser445Arg) single nucleotide variant Likely pathogenic rs61748552 GRCh38 Chromosome 1, 94078611: 94078611
50 ABCA4 NM_000350.2(ABCA4): c.1804C> T (p.Arg602Trp) single nucleotide variant Pathogenic rs61749409 GRCh37 Chromosome 1, 94528266: 94528266

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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.95 BBS1 BBS10 BBS4 CEP290 LCA5 RPGR
2 microtubule organizing center GO:0005815 9.85 BBS1 BBS4 CEP290 IQCB1 LCA5 RPGR
3 centrosome GO:0005813 9.83 BBS1 BBS4 CEP290 IQCB1 RPGR
4 cilium GO:0005929 9.8 BBS1 BBS10 BBS4 CEP290 LCA5 RPGR
5 centriole GO:0005814 9.65 BBS4 CEP290 IQCB1
6 ciliary basal body GO:0036064 9.65 BBS1 BBS4 CEP290 RPGR USH2A
7 centriolar satellite GO:0034451 9.51 BBS4 CEP290
8 photoreceptor disc membrane GO:0097381 9.49 ABCA4 GUCY2D
9 BBSome GO:0034464 9.46 BBS1 BBS4
10 photoreceptor connecting cilium GO:0032391 9.46 BBS4 CEP290 IQCB1 USH2A
11 photoreceptor outer segment GO:0001750 9.35 ABCA4 BBS4 CERKL IQCB1 RPGR
12 photoreceptor inner segment GO:0001917 9.02 BBS4 CERKL CRB1 DRAM2 USH2A

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.93 ABCA4 BBS1 BBS10 BBS4 BEST1 EYS
2 protein transport GO:0015031 9.92 BBS1 BBS4 CEP290 LCA5 VPS13B
3 cilium assembly GO:0060271 9.8 BBS1 BBS4 CEP290 IQCB1 RPGR
4 visual perception GO:0007601 9.77 ABCA4 BBS1 BBS10 BBS4 BEST1 DRAM2
5 cell projection organization GO:0030030 9.72 BBS1 BBS4 CEP290 IQCB1 RPGR
6 retinoid metabolic process GO:0001523 9.65 ABCA4 RDH12 RPE65
7 non-motile cilium assembly GO:1905515 9.61 BBS1 BBS10 BBS4
8 retina homeostasis GO:0001895 9.56 BBS1 BBS10 BBS4 RPE65
9 protein localization to cilium GO:0061512 9.54 BBS1 BBS4
10 detection of light stimulus involved in visual perception GO:0050908 9.54 BEST1 EYS RPE65
11 eye photoreceptor cell development GO:0042462 9.51 CEP290 CRB1
12 photoreceptor cell outer segment organization GO:0035845 9.49 BBS4 CDHR1
13 maintenance of animal organ identity GO:0048496 9.46 IQCB1 USH2A
14 photoreceptor cell maintenance GO:0045494 9.28 ABCA4 BBS1 BBS10 BBS4 CDHR1 DRAM2

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
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31 HMDB
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69 SNOMED-CT via HPO
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