MCID: VTR010
MIFTS: 33

Vitreoretinochoroidopathy

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Vitreoretinochoroidopathy

MalaCards integrated aliases for Vitreoretinochoroidopathy:

Name: Vitreoretinochoroidopathy 54 24 71 29 52 69
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 54 29 13
Advirc 24 56 71
Autosomal Dominant Vitreoretinochoroidopathy 56 69
Vrcp 24 71
Vitreoretinochoroidopathy Autosomal Dominant with Nanophthalmos, Microcornea, Rod-Cone Dystrophy, Cataract and Posterior Staphyloma 71
Microcornea-Rod-Cone Dystrophy-Cataract-Posterior Staphyloma Syndrome 56
Vitreoretinochoroidopathy with Microcornea-Glaucoma-Cataract 71
Vitreoretinochoroidopathy, Autosomal Dominant 71
Mrcs Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
mrcs syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;
autosomal dominant vitreoretinochoroidopathy
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
vitreoretinochoroidopathy:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 193220
UMLS via Orphanet 70 C2674009 C3888099
MESH via Orphanet 43 C536352
ICD10 via Orphanet 34 H35.5

Summaries for Vitreoretinochoroidopathy

Genetics Home Reference : 25 Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a disorder that affects several parts of the eyes, including the clear gel that fills the eye (the vitreous), the light-sensitive tissue that lines the back of the eye (the retina), and the network of blood vessels within the retina (the choroid). The eye abnormalities in ADVIRC can lead to varying degrees of vision impairment, from mild reduction to complete loss, although some people with the condition have normal vision.

MalaCards based summary : Vitreoretinochoroidopathy, also known as microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, is related to vitreoretinochoroidopathy dominant and cataract, and has symptoms including nystagmus, strabismus and retinal detachment. An important gene associated with Vitreoretinochoroidopathy is BEST1 (Bestrophin 1). Affiliated tissues include eye and retina.

UniProtKB/Swiss-Prot : 71 Vitreoretinochoroidopathy, autosomal dominant: A disorder characterized by vitreoretinochoroidal dystrophy. The clinical presentation is variable. VRCP may be associated with cataract, nanophthalmos, microcornea, shallow anterior chamber, and glaucoma.

Description from OMIM: 193220

Related Diseases for Vitreoretinochoroidopathy

Diseases in the Vitreoretinochoroidopathy family:

Vitreoretinochoroidopathy Dominant

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

id Related Disease Score Top Affiliating Genes
1 vitreoretinochoroidopathy dominant 12.2
2 cataract 10.5
3 cone dystrophy 10.5
4 retinitis 9.8

Symptoms & Phenotypes for Vitreoretinochoroidopathy

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
microcornea
night blindness onset during teen years
cataracts, pulverulent
microphthalmia (some)
dyschromatopsia (some)
more
Laboratory- Abnormalities:
reduced electroretinogram (scotopic > photopic) becoming extinguished in older patients


Clinical features from OMIM:

193220

Human phenotypes related to Vitreoretinochoroidopathy:

32 (show all 15)
id Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 strabismus 32 HP:0000486
3 retinal detachment 32 HP:0000541
4 pigmentary retinopathy 32 HP:0000580
5 microphthalmia 32 occasional (7.5%) HP:0000568
6 glaucoma 32 HP:0000501
7 nyctalopia 32 HP:0000662
8 microcornea 32 HP:0000482
9 dyschromatopsia 32 occasional (7.5%) HP:0007641
10 pulverulent cataract 32 HP:0010693
11 vitreous hemorrhage 32 HP:0007902
12 abnormality of color vision 32 HP:0000551
13 abnormality of chorioretinal pigmentation 32 HP:0007661
14 retinal arteriolar occlusion 32 HP:0007985
15 retinal arteriolar constriction 32 HP:0008043

Drugs & Therapeutics for Vitreoretinochoroidopathy

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Stem Cell Models of Best Disease and Other Retinal Degenerative Diseases. Recruiting NCT02162953

Search NIH Clinical Center for Vitreoretinochoroidopathy

Genetic Tests for Vitreoretinochoroidopathy

Genetic tests related to Vitreoretinochoroidopathy:

id Genetic test Affiliating Genes
1 Vitreoretinochoroidopathy 29 24 BEST1
2 Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 29

Anatomical Context for Vitreoretinochoroidopathy

MalaCards organs/tissues related to Vitreoretinochoroidopathy:

39
Eye, Retina

Publications for Vitreoretinochoroidopathy

Articles related to Vitreoretinochoroidopathy:

(show all 15)
id Title Authors Year
1
Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256Ga88>a88A Mutation in BEST1. ( 26771239 )
2016
2
Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC). ( 27653836 )
2016
3
Long-Term Macular Changes in the First Proband of Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Due to a Newly Identified Mutation in BEST1. ( 26849243 )
2016
4
Progressive Cone Dysfunction and Geographic Atrophy of the Macula in Late Stage Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC). ( 24564716 )
2014
5
BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies. ( 21072067 )
2011
6
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). ( 15452077 )
2004
7
Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree. ( 11585313 )
2001
8
Autosomal dominant vitreoretinochoroidopathy with normal electrooculogram in a German family. ( 9498121 )
1998
9
Autosomal dominant vitreoretinochoroidopathy. ( 9279944 )
1997
10
Histopathologic study of autosomal dominant vitreoretinochoroidopathy in a 26-year-old woman. ( 7487628 )
1995
11
Autosomal dominant vitreoretinochoroidopathy. Report of the third family. ( 8431155 )
1993
12
Electro-oculography in autosomal dominant vitreoretinochoroidopathy. ( 1444912 )
1992
13
Histopathologic study of autosomal dominant vitreoretinochoroidopathy. Peripheral annular pigmentary dystrophy of the retina. ( 2516300 )
1989
14
Autosomal dominant vitreoretinochoroidopathy (ADVIRC). ( 6689931 )
1984
15
Autosomal dominant vitreoretinochoroidopathy. ( 7065944 )
1982

Variations for Vitreoretinochoroidopathy

UniProtKB/Swiss-Prot genetic disease variations for Vitreoretinochoroidopathy:

71
id Symbol AA change Variation ID SNP ID
1 BEST1 p.Val86Met VAR_058274 rs121918289
2 BEST1 p.Tyr236Cys VAR_058275 rs121918291
3 BEST1 p.Val239Met VAR_058276 rs121918290

ClinVar genetic disease variations for Vitreoretinochoroidopathy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 BEST1 NM_004183.3(BEST1): c.256G> A (p.Val86Met) single nucleotide variant Pathogenic rs121918289 GRCh37 Chromosome 11, 61723198: 61723198
2 BEST1 NM_004183.3(BEST1): c.715G> A (p.Val239Met) single nucleotide variant Pathogenic rs121918290 GRCh37 Chromosome 11, 61725618: 61725618
3 BEST1 NM_004183.3(BEST1): c.707A> G (p.Tyr236Cys) single nucleotide variant Pathogenic rs121918291 GRCh37 Chromosome 11, 61724929: 61724929
4 BEST1 NM_004183.3(BEST1): c.704T> C (p.Val235Ala) single nucleotide variant Pathogenic rs267606679 GRCh37 Chromosome 11, 61724926: 61724926

Expression for Vitreoretinochoroidopathy

Search GEO for disease gene expression data for Vitreoretinochoroidopathy.

Pathways for Vitreoretinochoroidopathy

GO Terms for Vitreoretinochoroidopathy

Sources for Vitreoretinochoroidopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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