Aliases & Classifications for Fundus Dystrophy

MalaCards integrated aliases for Fundus Dystrophy:

Name: Fundus Dystrophy 12 14
Retinal Dystrophies 41 69
Retinal Dystrophy 12 28

Classifications:



External Ids:

Disease Ontology 12 DOID:8501
MeSH 41 D058499
NCIt 46 C35625
SNOMED-CT 64 314407005
UMLS 69 C0854723

Summaries for Fundus Dystrophy

MalaCards based summary : Fundus Dystrophy, also known as retinal dystrophies, is related to hereditary retinal dystrophy and severe early-childhood-onset retinal dystrophy. An important gene associated with Fundus Dystrophy is CRB1 (Crumbs 1, Cell Polarity Complex Component). The drugs Vitamin A and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and testes, and related phenotypes are nervous system and pigmentation

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 64)
# Related Disease Score Top Affiliating Genes
1 hereditary retinal dystrophy 34.4 LCA5 RS1
2 severe early-childhood-onset retinal dystrophy 34.4 ABCA4 LCA5
3 cone-rod dystrophy 2 33.7 ABCA4 CDHR1 CRB1 KCNV2 PROM1 PRPH2
4 retinitis 31.0 EYS PRPH2 RGR RP2 RPGR
5 macular degeneration, age-related, 1 30.9 ABCA4 BEST1 CRB1 PRPH2
6 retinitis pigmentosa 29.8 ABCA4 BEST1 C2orf71 CDHR1 CRB1 DRAM2
7 sorsby fundus dystrophy 12.6
8 doyne honeycomb retinal dystrophy 12.4
9 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 12.3
10 retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities 12.3
11 bothnia retinal dystrophy 12.3
12 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 12.3
13 pseudoinflammatory fundus dystrophy 12.2
14 retinal dystrophy and obesity 12.2
15 retinal dystrophy with or without macular staphyloma 12.2
16 retinal dystrophy, juvenile cataracts, and short stature syndrome 12.2
17 retinal dystrophy with or without extraocular anomalies 12.1
18 retinal dystrophy, reticular pigmentary, of posterior pole 12.0
19 fundus dystrophy, pseudoinflammatory, recessive form 12.0
20 retinal dystrophy and iris coloboma with or without congenital cataract 11.9
21 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome 11.9
22 retinal dystrophies primarily involving bruch's membrane 11.9
23 cone-rod dystrophy 16 11.8
24 retinal dystrophy in systemic or cerebroretinal lipidoses 11.8
25 x-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome 11.8
26 senior-loken syndrome 1 11.7
27 leber congenital amaurosis 14 11.7
28 cone-rod dystrophy 21 11.7
29 fundus albipunctatus 10.8
30 leber congenital amaurosis 9 10.8 CRB1 LCA5 RDH12
31 retinitis pigmentosa 44 10.7 RDH12 RGR RPGR
32 retinitis pigmentosa 56 10.7 IMPG2 RDH12
33 peripheral retinal degeneration 10.7 BEST1 PRPH2 RPGR
34 stargardt macular degeneration 10.7 ABCA4 PRPH2
35 retinitis pigmentosa 3 10.7 ABCA4 IQCB1 RPGR
36 leber congenital amaurosis 3 10.7 LCA5 RDH12
37 macular dystrophy, vitelliform, 3 10.7 BEST1 IMPG2 PRPH2
38 retinitis pigmentosa 50 10.7 BEST1 RPGR
39 bestrophinopathy 10.7 BEST1 PRPH2
40 macular dystrophy, dominant cystoid 10.7 BEST1 CRB1
41 retinitis pigmentosa 2 10.7 RP2 RPGR
42 usher syndrome, type id 10.7 CDHR1 USH2A
43 retinal degeneration 10.6 ABCA4 BEST1 CRB1 PRPH2 RP2 RPGR
44 prolonged electroretinal response suppression 10.6 ABCA4 CDHR1 CRB1 KCNV2 PROM1 PRPH2
45 spiradenoma 10.6 IMPG2 RDH12
46 stargardt disease 10.6 ABCA4 CRB1 EYS PROM1 PRPH2 RDH12
47 ewing sarcoma 10.6 ABCA4 IMPG2 PROM1 RDH12 RS1
48 encephalopathy, ethylmalonic 10.6 IMPG2 RDH12
49 retinal disease 10.6 ABCA4 BEST1 CRB1 PRPH2 RDH12 RPGR
50 occult macular dystrophy 10.6 ABCA4 KCNV2

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



Diseases related to Fundus Dystrophy

Symptoms & Phenotypes for Fundus Dystrophy

MGI Mouse Phenotypes related to Fundus Dystrophy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.9 ABCA4 C2orf71 CRB1 LCA5 PROM1 PRPH2
2 pigmentation MP:0001186 9.61 ABCA4 BEST1 C2orf71 CRB1 LCA5 PROM1
3 vision/eye MP:0005391 9.47 ABCA4 BEST1 C2orf71 CDHR1 CRB1 LCA5

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
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3,Phase 1 68-26-8, 11103-57-4 445354
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
3
Lutein Approved, Investigational, Nutraceutical Phase 3,Phase 1,Phase 2 127-40-2 6433159
4 Tocopherol Approved, Investigational, Nutraceutical Phase 3
5
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
6
B-Carotene Approved, Nutraceutical Phase 2, Phase 3,Phase 1 7235-40-7 5280489
7 Pharmaceutical Solutions Phase 3,Phase 1,Phase 2,Not Applicable
8 Retinol palmitate Phase 3,Phase 1
9 Central Nervous System Depressants Phase 3,Phase 2
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 Protective Agents Phase 3,Phase 2,Phase 1
17 Antioxidants Phase 3,Phase 2,Phase 1
18 Bone Density Conservation Agents Phase 3
19 Carotenoids Phase 2, Phase 3,Phase 1
20 Anesthetics Phase 3,Phase 2,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 2 299-42-3 9294
25
Pseudoephedrine Approved Phase 1, Phase 2 90-82-4 7028
26
Ciprofloxacin Approved, Investigational Phase 2,Phase 1 85721-33-1 2764
27
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
28
Iodine Approved, Investigational Phase 2,Phase 1 7553-56-2 807
29
Minocycline Approved, Investigational Phase 1, Phase 2 10118-90-8 5281021
30
Povidone-iodine Approved Phase 2,Phase 1 25655-41-8
31
Povidone Approved Phase 2,Phase 1 9003-39-8
32
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
33
Levodopa Approved Phase 2 59-92-7 6047
34
Carbidopa Approved Phase 2 28860-95-9 38101 34359
35
Adapalene Approved Phase 1, Phase 2 106685-40-9 60164
36
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
37 Respiratory System Agents Phase 1, Phase 2
38 Mitogens Phase 1, Phase 2
39 Nasal Decongestants Phase 1, Phase 2
40 Tetrahydrozoline Phase 1, Phase 2,Phase 2,Not Applicable
41 Vasoconstrictor Agents Phase 1, Phase 2
42 Ophthalmic Solutions Phase 1, Phase 2,Phase 2,Not Applicable
43 Peripheral Nervous System Agents Phase 1, Phase 2
44 Anti-Infective Agents Phase 1, Phase 2,Phase 2,Not Applicable
45 Autonomic Agents Phase 1, Phase 2
46 cadexomer iodine Phase 2,Phase 1
47 Brimonidine Tartrate Phase 1, Phase 2 70359-46-5
48 Adjuvants, Immunologic Phase 2,Phase 1
49 Adrenergic Agents Phase 1, Phase 2
50 Adrenergic Agonists Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 144)

# 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 The Effect of Oral Administration of 9-cis β Carotene Rich Powder of the Alga Dunaliella Bardawil Recruiting NCT01680510 Phase 2, Phase 3
6 Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis Active, not recruiting NCT00999609 Phase 3
7 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 Not yet recruiting NCT03293524 Phase 3 Placebo
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 Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65 Completed NCT01496040 Phase 1, Phase 2 rAAV2/4.hRPE65
12 Safety Study of RPE65 Gene Therapy to Treat Leber Congenital Amaurosis Completed NCT00643747 Phase 1, Phase 2
13 Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01399515 Phase 2 Valproic Acid
14 DHA and X-Linked Retinitis Pigmentosa Completed NCT00100230 Phase 2 docosahexaenoic acid OR corn/soy oil placebo
15 Safety of a Single, Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Retinitis Pigmentosa Completed NCT02320812 Phase 1, Phase 2
16 Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01560715 Phase 2
17 Trial of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01233609 Phase 2 Valproic Acid;Placebo
18 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
19 A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa Completed NCT00447993 Phase 2 NT-501;NT-501
20 A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa Completed NCT00447980 Phase 2 NT-501;NT-501
21 Safety Study in Retinal Transplantation for Retinitis Pigmentosa. Completed NCT00345917 Phase 2
22 Feasibility Study of a Chronic Retinal Stimulator in Retinitis Pigmentosa Completed NCT00279500 Phase 1, 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 Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa Recruiting NCT03073733 Phase 2
32 Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa Recruiting NCT02837640 Phase 2 levodopa-carbidopa
33 RST-001 Phase I/II Trial for Advanced Retinitis Pigmentosa Recruiting NCT02556736 Phase 1, Phase 2 RST-001
34 Safety and Tolerability of hRPC in Retinitis Pigmentosa Recruiting NCT02464436 Phase 1, Phase 2 hRPC
35 Cone Rescue in Retinitis Pigmentosa by the Treatment of Lycium Barbarum Recruiting NCT02244996 Phase 2
36 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
37 Study of UshStat in Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B Recruiting NCT01505062 Phase 1, Phase 2
38 Saffron Supplementation in Stargardt's Disease Active, not recruiting NCT01278277 Phase 1, 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 Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study Enrolling by invitation NCT02804360 Phase 2
45 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
46 A First-in-human, Proof of Concept Study of CPK850 in Patients With RLBP1 Retinitis Pigmentosa Not yet recruiting NCT03374657 Phase 1, Phase 2
47 Dose-escalation Study to Evaluate the Safety and Tolerability of GS030 in Subjects With Retinitis Pigmentosa Not yet recruiting NCT03326336 Phase 1, Phase 2
48 The Effect of Oral Administration of 9-cis Rich Powder of the Alga Dunaliella Bardawil on Visual Functions in Adolescent Patients With Retinitis Pigmentosa Not yet recruiting NCT02018692 Phase 1, Phase 2
49 Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS) Suspended NCT02338973 Phase 1, Phase 2 Interferon gamma-1b
50 Phase 1 Safety Study of ALK-001 in Healthy Volunteers Completed NCT02230228 Phase 1 ALK-001 (No generic name)

Search NIH Clinical Center for Fundus Dystrophy

Cochrane evidence based reviews: retinal dystrophies

Genetic Tests for Fundus Dystrophy

Genetic tests related to Fundus Dystrophy:

# Genetic test Affiliating Genes
1 Retinal Dystrophy 28

Anatomical Context for Fundus Dystrophy

MalaCards organs/tissues related to Fundus Dystrophy:

38
Eye, Endothelial, Testes

Publications for Fundus Dystrophy

Articles related to Fundus Dystrophy:

(show top 50) (show all 79)
# Title Authors Year
1
Sorsby fundus dystrophy - A review of pathology and disease mechanisms. ( 28847738 )
2017
2
Bilateral choroidal neovascular membrane in a young patient with Sorsby fundus dystrophy: the value of prompt treatment. ( 28775088 )
2017
3
OCT angiography in the management of choroidal neovascular membrane secondary to Sorsby fundus dystrophy. ( 27587748 )
2016
4
Can Novel Treatment of Age-Related Macular Degeneration Be Developed by Better Understanding of Sorsby's Fundus Dystrophy. ( 26239453 )
2015
5
Sorsby's Fundus Dystrophy: Novel mutations, novel phenotypic characteristics and treatment outcomes. ( 25766588 )
2015
6
ALTERING THE CLINICAL COURSE OF SORSBY FUNDUS DYSTROPHY WITH THE USE OF ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR INTRAOCULAR THERAPY. ( 25383845 )
2014
7
A novel mutation at the N-terminal domain of the TIMP3 gene in Sorsby fundus dystrophy. ( 23023527 )
2013
8
Ranibizumab for the management of Sorsby fundus dystrophy. ( 23099917 )
2013
9
Atypical sorsby fundus dystrophy with a novel tyr159cys timp-3 mutation. ( 25390527 )
2013
10
Choroidal neovascularization secondary to sorsby fundus dystrophy treated with intravitreal bevacizumab. ( 25390961 )
2012
11
A review and update on the molecular basis of pathogenesis of Sorsby fundus dystrophy. ( 22183341 )
2012
12
Successful treatment of choroidal neovascularization secondary to sorsby fundus dystrophy with intravitreal bevacizumab. ( 25389882 )
2011
13
Retraction notice. "Sorsby fundus dystrophy-related mutation in tissue inhibitor of metalloproteinases-3 impairs regulation of its expression in mouse fibroblasts" by G. T. Sukhikh and G. M. Soboleva, Vol. 143, No. 1, pp. 64-67, January 2007. ( 20082501 )
2009
14
Sorsby's Fundus Dystrophy: a case report to raise awareness of the disease and potential future treatments. ( 19459875 )
2009
15
Clinical and biochemical effects of the E139K missense mutation in the TIMP3 gene, associated with Sorsby fundus dystrophy. ( 19536307 )
2009
16
Clinical course and treatment outcomes of Sorsby fundus dystrophy. ( 18501328 )
2008
17
Molecular dissection of TIMP3 mutation S156C associated with Sorsby fundus dystrophy. ( 18295466 )
2008
18
Genetic aberrations in tissue inhibitor of metalloproteinases-3 lead to manifestations of the myofibroblast phenotype in mouse fibroblasts and fibroblasts of patients with Sorsby fundus dystrophy. ( 17970209 )
2007
19
Sorsby fundus dystrophy-related mutation in tissue inhibitor of metalloproteinases-3 impairs regulation of its expression in mouse fibroblasts. ( 18019015 )
2007
20
Choroidal neovascularization secondary to Sorsby fundus dystrophy treated with systemic bevacizumab (Avastin). ( 17433023 )
2007
21
Optical coherence tomography for assessing disease progression in sorsby fundus dystrophy. ( 17151501 )
2006
22
A novel His158Arg mutation in TIMP3 causes a late-onset form of Sorsby fundus dystrophy. ( 16989765 )
2006
23
TIMP3 mutation in Sorsby's fundus dystrophy: molecular insights. ( 16259644 )
2005
24
A novel TIMP3 mutation associated with Sorsby fundus dystrophy. ( 15824229 )
2005
25
Choroidal neovascularization in sorsby fundus dystrophy treated with photodynamic therapy and intravitreal triamcinolone acetonide. ( 15805922 )
2005
26
Sorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells. ( 16223891 )
2005
27
Sorsby fundus dystrophy presenting with choroidal neovascularisation showing good response to steroid treatment. ( 14977790 )
2004
28
Tissue inhibitor of metalloproteinases-3 and Sorsby fundus dystrophy. ( 15180253 )
2003
29
Expression of mutant and wild-type TIMP3 in primary gingival fibroblasts from Sorsby's fundus dystrophy patients. ( 12757930 )
2003
30
Successful photodynamic therapy for subretinal neovascularisation due to Sorsby's fundus dystrophy: 1 year follow up. ( 12770993 )
2003
31
TIMP-3 mRNA is not overexpressed in Sorsby fundus dystrophy. ( 14597066 )
2003
32
Sorsby fundus dystrophy mutation Timp3(S156C) affects the morphological and biochemical phenotype but not metalloproteinase homeostasis. ( 12942551 )
2003
33
Analysis of the collagen VI assemblies associated with Sorsby's fundus dystrophy. ( 12064931 )
2002
34
Expression of Sorsby's fundus dystrophy mutations in human retinal pigment epithelial cells reduces matrix metalloproteinase inhibition and may promote angiogenesis. ( 11821400 )
2002
35
Sorsby's fundus dystrophy mutant tissue inhibitors of metalloproteinase-3 induce apoptosis of retinal pigment epithelial and MCF-7 cells. ( 12372614 )
2002
36
A mouse model for Sorsby fundus dystrophy. ( 12147610 )
2002
37
Sorsby's fundus dystrophy tissue inhibitor of metalloproteinases-3 (TIMP-3) mutants have unimpaired matrix metalloproteinase inhibitory activities, but affect cell adhesion to the extracellular matrix. ( 11827795 )
2002
38
Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy. ( 11879143 )
2002
39
Clinical features of a novel TIMP-3 mutation causing Sorsby's fundus dystrophy: implications for disease mechanism. ( 11734514 )
2001
40
Sorsby's fundus dystrophy. ( 11486938 )
2001
41
Indocyanine green angiography in Sorsby's fundus dystrophy. ( 10766286 )
2000
42
TIMP-3, collagen, and elastin immunohistochemistry and histopathology of Sorsby's fundus dystrophy. ( 10711711 )
2000
43
Sorsby fundus dystrophy without a mutation in the TIMP-3 gene. ( 10873973 )
2000
44
A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby's fundus dystrophy. ( 10854443 )
2000
45
What is Sorsby's fundus dystrophy? ( 10873972 )
2000
46
Sorsby's fundus dystrophy: a case report of 24 years follow-up with electrodiagnostic tests and indocyanine green angiography. ( 10396378 )
1999
47
Sorsby's fundus dystrophy in two Japanese families with unusual clinical features. ( 10672875 )
1999
48
Sorsby's fundus dystrophy: what does TIMP3 tell us about general mechanisms underlying macular degeneration? ( 12482286 )
1999
49
Localization of the functional domains of human tissue inhibitor of metalloproteinases-3 and the effects of a Sorsby's fundus dystrophy mutation. ( 9642234 )
1998
50
Accumulation of tissue inhibitor of metalloproteinases-3 in human eyes with Sorsby's fundus dystrophy or retinitis pigmentosa. ( 9924344 )
1998

Variations for Fundus Dystrophy

ClinVar genetic disease variations for Fundus Dystrophy:

6 (show top 50) (show all 60)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCA4 NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val) single nucleotide variant Pathogenic/Likely pathogenic rs61751374 GRCh37 Chromosome 1, 94508969: 94508969
2 ABCA4 NM_000350.2(ABCA4): c.6088C> T (p.Arg2030Ter) single nucleotide variant Pathogenic rs61751383 GRCh37 Chromosome 1, 94471056: 94471056
3 GUCY2D NM_000180.3(GUCY2D): c.2513G> A (p.Arg838His) single nucleotide variant Pathogenic/Likely pathogenic rs61750173 GRCh37 Chromosome 17, 7918019: 7918019
4 RS1 NM_000330.3(RS1): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs61752067 GRCh37 Chromosome X, 18665333: 18665333
5 RP2 NM_006915.2(RP2): c.358C> T (p.Arg120Ter) single nucleotide variant Pathogenic rs104894927 GRCh37 Chromosome X, 46713166: 46713166
6 BBS1 NM_024649.4(BBS1): c.1169T> G (p.Met390Arg) single nucleotide variant Pathogenic/Likely pathogenic rs113624356 GRCh37 Chromosome 11, 66293652: 66293652
7 CRB1 NM_201253.2(CRB1): c.2843G> A (p.Cys948Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs62645748 GRCh37 Chromosome 1, 197403836: 197403836
8 KCNV2 NM_133497.3(KCNV2): c.8_11delAACA (p.Lys3Argfs) deletion Pathogenic rs786205121 GRCh37 Chromosome 9, 2717747: 2717750
9 VPS13B NM_017890.4(VPS13B): c.11314C> T (p.Gln3772Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834061 GRCh37 Chromosome 8, 100880540: 100880540
10 CEP290 NM_025114.3(CEP290): c.5493delA (p.Ala1832Profs) deletion Pathogenic/Likely pathogenic rs386834158 GRCh37 Chromosome 12, 88471567: 88471567
11 EYS NM_001142800.1(EYS): c.7095T> G (p.Tyr2365Ter) single nucleotide variant Pathogenic rs398123575 GRCh37 Chromosome 6, 64574212: 64574212
12 RPE65 NM_000329.2(RPE65): c.11+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs61751276 GRCh37 Chromosome 1, 68915573: 68915573
13 ABCA4 NM_000350.2(ABCA4): c.1804C> T (p.Arg602Trp) single nucleotide variant Pathogenic/Likely pathogenic rs61749409 GRCh37 Chromosome 1, 94528266: 94528266
14 ABCA4 NM_000350.2(ABCA4): c.3303G> A (p.Trp1101Ter) single nucleotide variant Pathogenic rs61752419 GRCh37 Chromosome 1, 94508342: 94508342
15 ABCA4 NM_000350.2(ABCA4): c.4469G> A (p.Cys1490Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs61751402 GRCh37 Chromosome 1, 94495071: 94495071
16 ABCA4 NM_000350.2(ABCA4): c.4919G> A (p.Arg1640Gln) single nucleotide variant Pathogenic/Likely pathogenic rs61751403 GRCh37 Chromosome 1, 94486895: 94486895
17 ABCA4 NM_000350.2(ABCA4): c.5917delG (p.Val1973Terfs) deletion Pathogenic rs61751389 GRCh37 Chromosome 1, 94473278: 94473278
18 ABCA4 NM_000350.2(ABCA4): c.6229C> T (p.Arg2077Trp) single nucleotide variant Pathogenic/Likely pathogenic rs61750645 GRCh37 Chromosome 1, 94467467: 94467467
19 ABCA4 NM_000350.2(ABCA4): c.6445C> T (p.Arg2149Ter) single nucleotide variant Pathogenic/Likely pathogenic rs61750654 GRCh37 Chromosome 1, 94466426: 94466426
20 PROM1 NM_006017.2(PROM1): c.1557C> A (p.Tyr519Ter) single nucleotide variant Pathogenic rs137853907 GRCh37 Chromosome 4, 16002140: 16002140
21 USH2A NM_206933.2(USH2A): c.13374delA (p.Glu4458Aspfs) deletion Pathogenic rs727503715 GRCh37 Chromosome 1, 215847879: 215847879
22 MYO7A NM_000260.3(MYO7A): c.5899C> T (p.Arg1967Ter) single nucleotide variant Pathogenic/Likely pathogenic rs376764423 GRCh37 Chromosome 11, 76919517: 76919517
23 NR2E3 NM_016346.3(NR2E3): c.119-2A> C single nucleotide variant Pathogenic/Likely pathogenic rs2723341 GRCh38 Chromosome 15, 71811481: 71811481
24 DRAM2 NM_178454.5(DRAM2): c.494G> A (p.Trp165Ter) single nucleotide variant Pathogenic rs201422368 GRCh37 Chromosome 1, 111663161: 111663161
25 DRAM2 NM_178454.5(DRAM2): c.362A> T (p.His121Leu) single nucleotide variant Pathogenic rs786205664 GRCh37 Chromosome 1, 111663293: 111663293
26 DRAM2 NM_178454.5(DRAM2): c.217_225delGTTCGTTAT (p.Val73_Tyr75del) deletion Pathogenic rs786205663 GRCh37 Chromosome 1, 111667478: 111667486
27 DRAM2 NM_178454.5(DRAM2): c.140delG (p.Gly47Valfs) deletion Pathogenic rs746559651 GRCh37 Chromosome 1, 111668908: 111668908
28 DRAM2 NM_178454.5(DRAM2): c.131G> A (p.Ser44Asn) single nucleotide variant Pathogenic rs786205665 GRCh37 Chromosome 1, 111674046: 111674046
29 DRAM2 NM_178454.5(DRAM2): c.79T> C (p.Tyr27His) single nucleotide variant Pathogenic rs786205662 GRCh37 Chromosome 1, 111674098: 111674098
30 DRAM2 NM_178454.5(DRAM2): c.64_66delGCT (p.Ala22del) deletion Pathogenic rs786205661 GRCh37 Chromosome 1, 111674111: 111674113
31 HGSNAT NM_152419.2(HGSNAT): c.848C> T (p.Pro283Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121908282 GRCh37 Chromosome 8, 43028883: 43028883
32 IQCB1 NM_001023570.3(IQCB1): c.1381C> T (p.Arg461Ter) single nucleotide variant Pathogenic rs121918244 GRCh37 Chromosome 3, 121500619: 121500619
33 RDH12 NM_152443.2(RDH12): c.806_810delCCCTG (p.Ala269Glyfs) deletion Pathogenic rs386834261 GRCh37 Chromosome 14, 68196055: 68196059
34 USH2A NM_206933.2(USH2A): c.2299delG (p.Glu767Serfs) deletion Pathogenic rs80338903 GRCh37 Chromosome 1, 216420437: 216420437
35 PROM1 NM_006017.2(PROM1): c.1726C> T (p.Gln576Ter) single nucleotide variant Pathogenic rs137853005 GRCh37 Chromosome 4, 15995651: 15995651
36 PROM1 NM_006017.2(PROM1): c.1117C> T (p.Arg373Cys) single nucleotide variant Pathogenic/Likely pathogenic rs137853006 GRCh37 Chromosome 4, 16014922: 16014922
37 PROM1 NM_001145849.1(PROM1): c.1177_1178delAT (p.Ile393Argfs) deletion Pathogenic/Likely pathogenic rs746174328 GRCh38 Chromosome 4, 16009072: 16009073
38 RPGR NM_001034853.1(RPGR): c.1928C> G (p.Ser643Ter) single nucleotide variant Pathogenic rs869312185 GRCh37 Chromosome X, 38146324: 38146324
39 PDE6B NM_000283.3(PDE6B): c.291C> A (p.Tyr97Ter) single nucleotide variant Pathogenic/Likely pathogenic rs876657718 GRCh37 Chromosome 4, 619706: 619706
40 ABCA4 NM_000350.2(ABCA4): c.4253+5G> A single nucleotide variant Pathogenic/Likely pathogenic rs61750138 GRCh38 Chromosome 1, 94030991: 94030991
41 CNGA1 NM_001142564.1(CNGA1): c.1747C> T (p.Arg583Ter) single nucleotide variant Pathogenic/Likely pathogenic rs199584830 GRCh37 Chromosome 4, 47938971: 47938971
42 LCA5 NM_181714.3(LCA5): c.633_639delAGCTAGA (p.Glu211Aspfs) deletion Pathogenic/Likely pathogenic rs878853382 GRCh38 Chromosome 6, 79513293: 79513299
43 CEP290 NM_025114.3(CEP290): c.2052+1_2052+2delGT deletion Pathogenic/Likely pathogenic rs747835249 GRCh37 Chromosome 12, 88508195: 88508196
44 CEP290 NM_025114.3(CEP290): c.1781T> A (p.Leu594Ter) single nucleotide variant Pathogenic/Likely pathogenic rs371496675 GRCh37 Chromosome 12, 88510853: 88510853
45 PROM1 NM_006017.2(PROM1): c.1354dupT (p.Tyr452Leufs) duplication Pathogenic rs543698823 GRCh37 Chromosome 4, 16008260: 16008260
46 VPS13B NM_017890.4(VPS13B): c.4620delA (p.Ser1541Profs) deletion Pathogenic rs1057518939 GRCh37 Chromosome 8, 100523652: 100523652
47 CRB1 NM_201253.2(CRB1): c.3542dup (p.Cys1181Trpfs) duplication Pathogenic GRCh37 Chromosome 1, 197404535: 197404535
48 ABCA4 NM_000350.2(ABCA4): c.1557C> A (p.Cys519Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 94063315: 94063315
49 ABCA4 NM_000350.2(ABCA4): c.1497G> A (p.Trp499Ter) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 1, 94077747: 94077747
50 ABCA4 NM_000350.2(ABCA4): c.885delC (p.Leu296Cysfs) deletion Pathogenic rs764759172 GRCh38 Chromosome 1, 94080692: 94080692

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 9.85 C2orf71 LCA5 PROM1 RP2 RPGR USH2A
2 apical plasma membrane GO:0016324 9.71 CRB1 DRAM2 PROM1 USH2A
3 ciliary basal body GO:0036064 9.61 RP2 RPGR USH2A
4 cilium GO:0005929 9.55 C2orf71 LCA5 PROM1 RP2 RPGR
5 photoreceptor outer segment membrane GO:0042622 9.32 CDHR1 PROM1
6 periciliary membrane compartment GO:1990075 9.26 RP2 USH2A
7 photoreceptor inner segment GO:0001917 9.26 C2orf71 CRB1 DRAM2 USH2A
8 photoreceptor outer segment GO:0001750 9.1 ABCA4 C2orf71 IQCB1 PROM1 PRPH2 RPGR

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 9.81 ABCA4 BEST1 C2orf71 EYS RDH12 RGR
2 photoreceptor cell maintenance GO:0045494 9.5 ABCA4 CDHR1 DRAM2 IQCB1 PROM1 RDH12
3 visual perception GO:0007601 9.44 ABCA4 BEST1 C2orf71 DRAM2 EYS IMPG2
4 retina layer formation GO:0010842 9.4 PROM1 RS1
5 detection of light stimulus involved in visual perception GO:0050908 9.37 BEST1 EYS
6 photoreceptor cell outer segment organization GO:0035845 9.32 C2orf71 CDHR1
7 maintenance of animal organ identity GO:0048496 9.26 IQCB1 USH2A

Sources for Fundus Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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