MCID: VTR001
MIFTS: 22

Vitreoretinal Dystrophy

Categories: Neuronal diseases

Aliases & Classifications for Vitreoretinal Dystrophy

MalaCards integrated aliases for Vitreoretinal Dystrophy:

Name: Vitreoretinal Dystrophy 12 15 71
Vitreoretinal Dystrophies 12

Classifications:



External Ids:

Disease Ontology 12 DOID:14251
ICD9CM 34 362.73
SNOMED-CT 67 79556007
ICD10 32 H35.51
UMLS 71 C0154863

Summaries for Vitreoretinal Dystrophy

MalaCards based summary : Vitreoretinal Dystrophy, also known as vitreoretinal dystrophies, is related to retinoschisis 1, x-linked, juvenile and stickler syndrome. An important gene associated with Vitreoretinal Dystrophy is FBLN1 (Fibulin 1), and among its related pathways/superpathways are Degradation of the extracellular matrix and Elastic fibre formation.

Related Diseases for Vitreoretinal Dystrophy

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

(show all 39)
# Related Disease Score Top Affiliating Genes
1 retinoschisis 1, x-linked, juvenile 30.3 RS1 NR2E3
2 stickler syndrome 29.7 OPTC CRYAA COL11A1
3 macular degeneration, age-related, 1 29.4 RS1 OPTC NR2E3 CRYAA
4 myopia 29.2 OPTC CRYAA COL11A1
5 retinal detachment 28.9 RS1 KCNJ13 FBLN2 COL11A1
6 leukocoria 10.2 RS1 CRYAA
7 doyne honeycomb retinal dystrophy 10.2 FBLN1 CRYAA
8 neovascular glaucoma 10.2 RS1 CRYAA
9 hereditary retinal dystrophy 10.1 RS1 CRYAA
10 vitreous disease 10.1 OPTC CRYAA
11 neuronopathy, distal hereditary motor, type iia 10.1 INSC CRYAA
12 familial osteochondritis dissecans 10.1 FBLN2 FBLN1
13 osteochondritis dissecans 10.1 FBLN2 FBLN1
14 glaucoma, normal tension 10.0 OPTC CRYAA
15 macular holes 10.0 RS1 OPTC CRYAA
16 macular dystrophy, dominant cystoid 10.0 RS1 NR2E3 CRYAA
17 vitreoretinal degeneration 10.0 KCNJ13 COL11A1
18 achromatopsia 10.0 RS1 NR2E3 CRYAA
19 eye degenerative disease 10.0 RS1 NR2E3 CRYAA
20 retinitis pigmentosa 9.9
21 yemenite deaf-blind hypopigmentation syndrome 9.9
22 joint laxity, short stature, and myopia 9.9
23 brachyolmia 9.9
24 neuroretinitis 9.9
25 retinitis 9.9
26 peripheral nervous system disease 9.9
27 retinal degeneration 9.9
28 neuropathy 9.9
29 knobloch syndrome 9.9
30 wagner syndrome 9.9
31 esotropia 9.9 CRYAA COL11A1
32 congenital stationary night blindness 9.9 RS1 NR2E3 CRYAA
33 glaucoma, primary open angle 9.8 OPTC CRYAA
34 retinal disease 9.7 RS1 OPTC NR2E3 CRYAA
35 strabismus 9.7 RS1 CRYAA COL11A1
36 leber plus disease 9.7 RS1 NR2E3 KCNJ13 CRYAA
37 fundus dystrophy 9.3 RS1 NR2E3 KCNJ13 CRYAA COL11A1
38 retinal perforation 9.3 RS1 OPTC CYLC2 CRYAA COL11A1
39 vitreous syneresis 9.2 RS1 OPTC KCNJ13 CYLC2 COL11A1

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



Diseases related to Vitreoretinal Dystrophy

Symptoms & Phenotypes for Vitreoretinal Dystrophy

Drugs & Therapeutics for Vitreoretinal Dystrophy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Molecular Genetics of Retinal Degenerations Completed NCT00231010

Search NIH Clinical Center for Vitreoretinal Dystrophy

Genetic Tests for Vitreoretinal Dystrophy

Anatomical Context for Vitreoretinal Dystrophy

Publications for Vitreoretinal Dystrophy

Articles related to Vitreoretinal Dystrophy:

(show all 25)
# Title Authors PMID Year
1
X-linked juvenile retinoschisis: phenotypic and genetic characterization. 61
30450322 2018
2
[Objective method to recognize warning signs in peripheral vitreoretinal dystrophies]. 61
27600896 2016
3
Rebound macular edema following oral acetazolamide therapy for juvenile X-linked retinoschisis in an Italian family. 61
27932860 2016
4
Temporary resolution of foveal schisis following vitrectomy with silicon oil tamponade in X-linked retinoschisis with retinal detachment. 61
26669343 2015
5
[The diseased vitreous body: Malformations, developmental disorders and opacities]. 61
26149492 2015
6
Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis. 61
24227916 2013
7
Spontaneous resolution of macular schisis in goldmann favre syndrome. 61
25389691 2011
8
Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide. 61
18835469 2009
9
[Study of vitreoretinal dystrophies in a Mexican population]. 61
18492415 2008
10
Idiopathic retinal holes in monozygotic twins. 61
16925714 2006
11
[Progressing myopia in children: does it need treatment or not?]. 61
15881146 2005
12
Clinical description and exclusion of candidate genes in a novel autosomal recessively inherited vitreoretinal dystrophy. 61
12912687 2003
13
Genomewide homozygosity mapping and molecular analysis of a candidate gene located on 22q13 (fibulin-1) in a previously undescribed vitreoretinal dystrophy. 61
12912698 2003
14
Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in the COL2A1 gene. 61
12511349 2003
15
X-linked retinoschisis with point mutations in the XLRS1 gene. 61
10636421 2000
16
Severe juvenile retinoschisis associated with a 33-bps deletion in XLRS1 gene. 61
10454824 1999
17
Exudative retinal detachment in X-linked retinoschisis. 61
9571668 1998
18
Linkage mapping of a large Colombian family segregating for X linked retinoschisis: refinement of the chromosomal location. 61
9192273 1997
19
Hereditary vitreoretinal dystrophy associated with peripheral neuropathy. 61
8082840 1994
20
Proton relaxation times of the vitreous body in hereditary vitreoretinal dystrophy. 61
7970545 1994
21
[Autosome dominant vitreoretinal dystrophy with skeletal dysplasia in one generation]. 61
2056740 1991
22
Progressive retinal changes observed in juvenile X-linked retinoschisis. 61
2380473 1990
23
Autosomal dominant juvenile vitreoretinal degeneration and retinal detachment. 61
3721711 1986
24
Flourescein angiography in mild stages of dominant exudative vitreoretinopathy. 61
548734 1979
25
[Vitreoretinal dystrophy with vitreous haemorrhage (author's transl)]. 61
979026 1976

Variations for Vitreoretinal Dystrophy

Expression for Vitreoretinal Dystrophy

Search GEO for disease gene expression data for Vitreoretinal Dystrophy.

Pathways for Vitreoretinal Dystrophy

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.58 OPTC FBLN2 FBLN1 COL11A1
2
Show member pathways
11.02 FBLN2 FBLN1
3 10.55 FBLN2 FBLN1

GO Terms for Vitreoretinal Dystrophy

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

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.13 FBLN2 FBLN1 COL11A1
2 extracellular matrix GO:0031012 8.92 OPTC FBLN2 FBLN1 COL11A1

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

# Name GO ID Score Top Affiliating Genes
1 collagen fibril organization GO:0030199 9.16 OPTC COL11A1
2 extracellular matrix organization GO:0030198 9.13 FBLN2 FBLN1 COL11A1
3 visual perception GO:0007601 8.92 RS1 NR2E3 CRYAA COL11A1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix binding GO:0050840 8.96 FBLN2 COL11A1
2 extracellular matrix structural constituent GO:0005201 8.92 OPTC FBLN2 FBLN1 COL11A1

Sources for Vitreoretinal Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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