MCID: FND002
MIFTS: 40

Fundus Dystrophy malady

Eye category

Summaries for Fundus Dystrophy

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33MalaCards
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MalaCards: Fundus Dystrophy, also known as retinal dystrophy, is related to leber congenital amaurosis and bardet-biedl syndrome. An important gene associated with Fundus Dystrophy is TIMP3 (TIMP metallopeptidase inhibitor 3), and among its related pathways are Retinol metabolism and the visual cycle I (vertebrates). The compounds retinoid and vitamin a have been mentioned in the context of this disorder. Related mouse phenotypes are nervous system and vision/eye.

Aliases & Classifications for Fundus Dystrophy

Sources:
8Disease Ontology, 10DISEASES, 22GTR, 49Orphanet, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 36MESH via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye


Aliases & Descriptions:

fundus dystrophy 8 10
retinal dystrophy 8 22 49
retinal dystrophies 61


External Ids:

Disease Ontology8 DOID:8501
NCIt40 C35625
MeSH35 D058499
SNOMED-CT57 314407005
MESH via Orphanet36 D058499
SNOMED-CT via Orphanet58 314407005
UMLS via Orphanet62 C0854723

Related Diseases for Fundus Dystrophy

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Fundus Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 105)
idRelated DiseaseScoreTop Affiliating Genes
1leber congenital amaurosis30.4LRAT, AIPL1, TULP1
2bardet-biedl syndrome30.2BBS10, BBS12, ARL6
3fundus albipunctatus30.0RDH5
4blindness30.0AIPL1, TIMP3
5cone-rod dystrophy 229.9TIMP3, TULP1, C8orf37, GUCA1B, AIPL1
6rhyns syndrome29.9TIMP3, RGR, ROM1, LRAT, AIPL1, GRK1
7sorsby fundus dystrophy11.0
8doyne honeycomb retinal dystrophy10.6
9pseudoinflammatory fundus dystrophy10.6
10hereditary retinal dystrophy10.5
11retinal dystrophy, early-onset, severe10.5
12cone dystrophy10.4
13bothnia retinal dystrophy10.4
14morm syndrome10.3
15severe early-childhood-onset retinal dystrophy10.3
16fundus dystrophy, pseudoinflammatory, of sorsby10.3
17n syndrome10.2
18macular dystrophy10.2
19anophthalmia or microphthalmia, retinal dystrophy and/or myopia associated with brain anomalies10.2
20roifman syndrome10.2
21retinal dystrophy, early-onset, and pituitary dysfunction10.2
22ataxia10.2
23aphonia - deafness - retinal dystrophy - bifid halluces - intellectual deficit10.2
24retinal dystrophies primarily involving bruch's membrane10.1
25retinal dystrophy in systemic or cerebroretinal lipidoses10.1
26micro syndrome10.1
27mental retardation10.1
28retinitis pigmentosa10.0
29retinitis10.0RDH5
30myopia 610.0RDH8
31bardet-biedl syndrome 1210.0BBS12
32night blindness10.0LRAT, GRK1, RDH5, TIMP3
33keratoconus10.0AIPL1, TIMP3
34polydactyly10.0BBS10, BBS12, ARL6
35oguchi disease 110.0RDH5, GRK1
36vitelliform macular dystrophy10.0TIMP3, ROM1
37partial central choroid dystrophy10.0TIMP3
38peripheral retinal degeneration10.0ROM1
39retinal disease10.0TIMP3, TULP1, RDH5, GUCA1B, GRK1, AIPL1
40retinal degeneration10.0OPN4, RDH8, RDH5, TULP1, TIMP3, GUCA1B
41congenital stationary night blindness10.0GRK1, RDH5
42stargardt disease9.9
43neurofibromatosis9.9
44gyrate atrophy9.9
45ichthyosis vulgaris9.9
46achondroplasia9.9
47nephronophthisis9.9
48alstrom syndrome9.9
49coloboma9.9
50usher syndrome9.9

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



Diseases related to fundus dystrophy

Clinical Features for Fundus Dystrophy

Drugs & Therapeutics for Fundus Dystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Fundus Dystrophy

Search CenterWatch for Fundus Dystrophy

Genetic Tests for Fundus Dystrophy

Sources:
22GTR
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Genetic tests related to Fundus Dystrophy:

id Genetic test Affiliating Genes
1 Retinal Dystrophy22

Anatomical Context for Fundus Dystrophy

Animal Models for Fundus Dystrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Fundus Dystrophy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036319.9LRAT, AIPL1, GRK1, PRPH, ARL6, OPN4
2MP:00053919.4BBS12, AIPL1, GRK1, ARL6, GUCA1B, OPN4

Publications for Fundus Dystrophy

Sources:
51PubMed
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Articles related to Fundus Dystrophy:

(show top 50)    (show all 107)
idTitleAuthorsYear
1
A review and update on the molecular basis of pathogenesis of Sorsby fundus dystrophy. (22183341)
2012
2
"Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology. (19952985)
2010
3
Fundus autofluorescence in a case of occult macular dystrophy. (20108567)
2009
4
Clinical course and treatment outcomes of Sorsby fundus dystrophy. (18501328)
2008
5
Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy. (17962389)
2008
6
Annular fundus autofluorescence abnormality in a case of macular dystrophy. (18008096)
2008
7
Photoreceptor images of normal eyes and of eyes with macular dystrophy obtained in vivo with an adaptive optics fundus camera. (18991039)
2008
8
Choroidal neovascularization secondary to Sorsby fundus dystrophy treated with systemic bevacizumab (Avastin). (17433023)
2007
9
Optical coherence tomography for assessing disease progression in sorsby fundus dystrophy. (17151501)
2006
10
TIMP3 mutation in Sorsby's fundus dystrophy: molecular insights. (16259644)
2005
11
Choroidal neovascularization in sorsby fundus dystrophy treated with photodynamic therapy and intravitreal triamcinolone acetonide. (15805922)
2005
12
Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy. (15302662)
2004
13
Expression of mutant and wild-type TIMP3 in primary gingival fibroblasts from Sorsby's fundus dystrophy patients. (12757930)
2003
14
Tissue inhibitor of metalloproteinases-3 and Sorsby fundus dystrophy. (15180253)
2003
15
RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus. (12906118)
2003
16
Successful photodynamic therapy for subretinal neovascularisation due to Sorsby's fundus dystrophy: 1 year follow up. (12770993)
2003
17
Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation. (12192456)
2002
18
A mouse model for Sorsby fundus dystrophy. (12147610)
2002
19
Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy. (11879143)
2002
20
A novel Gly35Ser mutation in the RDH5 gene in a Japanese family with fundus albipunctatus associated with cone dystrophy. (11448328)
2001
21
Sorsby's fundus dystrophy. (11486938)
2001
22
Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus. (11231769)
2001
23
Retinitis pigmentosa, pattern dystrophy and fundus flavimaculatus not related to mutations in rhodopsine, peripherin/RDS and ROM-1 genes]. (11151159)
2000
24
Intrafamilial variation of phenotype in Stargardt macular dystrophy-Fundus flavimaculatus. (10509664)
1999
25
Ophthaproblem. Juvenile macular dystrophy (fundus flavimaculatus or Stargardt's disease). (10509215)
1999
26
Accumulation of tissue inhibitor of metalloproteinases-3 in human eyes with Sorsby's fundus dystrophy or retinitis pigmentosa. (9924344)
1998
27
Sorsby's fundus dystrophy. A genetically homogeneous disease]. (9643018)
1998
28
A novel splice site mutation in the tissue inhibitor of the metalloproteinases-3 gene in Sorsby's fundus dystrophy with unusual clinical features. (9760202)
1998
29
Localization of the functional domains of human tissue inhibitor of metalloproteinases-3 and the effects of a Sorsby's fundus dystrophy mutation. (9642234)
1998
30
Rod plateaux during dark adaptation in Sorsby's fundus dystrophy and vitamin A deficiency. (9286267)
1997
31
Sorsby fundus dystrophy: reevaluation of variable expressivity in patients carrying a TIMP3 founder mutation. (9400791)
1997
32
Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. (8981947)
1997
33
Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes. (8919688)
1996
34
A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy. (8728699)
1996
35
Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3. (8639088)
1996
36
A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13. (7847373)
1995
37
Linkage refinement localises Sorsby fundus dystrophy between markers D22S275 and D22S278. (7783180)
1995
38
Sorsby's fundus dystrophy. A South African family with a point mutation on the tissue inhibitor of metalloproteinases-3 gene on chromosome 22. (8747441)
1995
39
Various fundus manifestations in a Japanese family with Best's vitelliform macular dystrophy. (8145393)
1993
40
Fundus albipunctatus associated with cone dystrophy. (1622952)
1992
41
A case of progressive cone dystrophy with marked asymmetry in the fundus. (2064257)
1991
42
Features of Sorsby's fundus dystrophy. (2255509)
1990
43
Hereditary macular dystrophy without visible fundus abnormality. (2774037)
1989
44
Sorsby's fundus dystrophy. A light and electron microscopic study. (2482957)
1989
45
Pseudoinflammatory fundus dystrophy with autosomal recessive inheritance. (7148944)
1982
46
Probable common origin of a hereditary fundus dystrophy (Sorsby's familial pseudoinflammatory macular dystrophy) in an English and Australian family. (1085369)
1976
47
Fluorescein photography of generalized dominant fundus dystrophy. (5696910)
1968
48
Fundus dystrophy with unusual features; a histological study. (14895843)
1951
49
A fundus dystrophy with unusual features. (18111349)
1949
50
FAMILIAL HYALINE DYSTROPHY IN THE FUNDUS OCULI OR DOYNE'S FAMILY HONEYCOMB "CHOROIDITIS". (18169427)
1937

Genetic Variations for Fundus Dystrophy

Expression for genes affiliated with Fundus Dystrophy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fundus Dystrophy

Search GEO for disease gene expression data for Fundus Dystrophy.

Pathways for genes affiliated with Fundus Dystrophy

Sources:
12EMD Millipore, 38NCBI BioSystems Database, 54Reactome, 30KEGG, 52QIAGEN
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Compounds for genes affiliated with Fundus Dystrophy

Sources:
45Novoseek, 11DrugBank, 24HMDB
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Compounds related to Fundus Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1retinoid4510.3RGR, LRAT, OPN4, RDH5
2vitamin a45 11 2412.0RGR, LRAT, AIPL1, GRK1, RDH8, RDH5
311-cis-retinol45 2411.0RDH5, LRAT, RGR

GO Terms for genes affiliated with Fundus Dystrophy

Sources:
16Gene Ontology
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Cellular components related to Fundus Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor inner segmentGO:00191710.3AIPL1, TULP1
2photoreceptor outer segment membraneGO:04262210.2ROM1, PRPH, OPN1LW
3photoreceptor disc membraneGO:09738110.1GRK1, GUCA1B

Biological processes related to Fundus Dystrophy according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1protein-chromophore linkageGO:01829810.5RGR, OPN1LW, OPN4
2retinoid metabolic processGO:00152310.5RDH5, RDH8, OPN1LW, LRAT
3phototransductionGO:00760210.4RGR, OPN4, TULP1
4retina homeostasisGO:00189510.4AIPL1, BBS10
5rhodopsin mediated signaling pathwayGO:01605610.4OPN4, GUCA1B, GRK1
6chaperone-mediated protein complex assemblyGO:05113110.4BBS12, BBS10
7regulation of rhodopsin mediated signaling pathwayGO:02240010.4GRK1, GUCA1B
8phototransduction, visible lightGO:00760310.3RDH5, RDH8, OPN1LW, GUCA1B, GRK1, AIPL1
9retinol metabolic processGO:04257210.3RDH5, LRAT
10photoreceptor cell maintenanceGO:04549410.1TULP1, BBS10
11visual perceptionGO:0076019.9RGR, BBS10, TIMP3, TULP1, RDH5, RDH8

Molecular functions related to Fundus Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor activityGO:00988110.4RGR, OPN1LW
2retinol dehydrogenase activityGO:00474510.2SDR9C7, RDH8, RDH5
3G-protein coupled photoreceptor activityGO:00802010.0OPN4, TULP1

Products for genes affiliated with Fundus Dystrophy

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Sources for Fundus Dystrophy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet