MCID: VTR010
MIFTS: 33

Vitreoretinochoroidopathy

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Vitreoretinochoroidopathy

MalaCards integrated aliases for Vitreoretinochoroidopathy:

Name: Vitreoretinochoroidopathy 53 71 28 51 69
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 53 28 13
Advirc 53 55 71
Vitreoretinochoroidopathy, Autosomal Dominant 53 71
Autosomal Dominant Vitreoretinochoroidopathy 55 69
Vrcp 53 71
Vitreoretinochoroidopathy Autosomal Dominant with Nanophthalmos, Microcornea, Rod-Cone Dystrophy, Cataract and Posterior Staphyloma 71
Microcornea-Rod-Cone Dystrophy-Cataract-Posterior Staphyloma Syndrome 55
Vitreoretinochoroidopathy with Microcornea, Glaucoma, and Cataract 53
Vitreoretinochoroidopathy, Autosomal Dominant, with Nanophthalmos 53
Vitreoretinochoroidopathy with Microcornea-Glaucoma-Cataract 71
Vitreoretinochoroidopathy, Autosomal Dominant; Advirc 53
Mrcs Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal dominant


HPO:

31
vitreoretinochoroidopathy:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare eye diseases


External Ids:

OMIM 53 193220
UMLS via Orphanet 70 C2674009 C3888099
MESH via Orphanet 42 C536352
ICD10 via Orphanet 33 H35.5

Summaries for Vitreoretinochoroidopathy

Genetics Home Reference : 24 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 nyctalopia. An important gene associated with Vitreoretinochoroidopathy is BEST1 (Bestrophin 1). Affiliated tissues include eye, retina and testes.

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:

# Related Disease Score Top Affiliating Genes
1 vitreoretinochoroidopathy dominant 12.5
2 cataract 10.5
3 cone dystrophy 10.5
4 retinitis 9.9

Symptoms & Phenotypes for Vitreoretinochoroidopathy

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
microcornea
fundus dystrophy
night blindness onset during teen years
cataracts, pulverulent
microphthalmia (some)
more
Laboratory Abnormalities:
reduced electroretinogram (scotopic > photopic) becoming extinguished in older patients


Clinical features from OMIM:

193220

Human phenotypes related to Vitreoretinochoroidopathy:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 strabismus 31 HP:0000486
3 nyctalopia 31 HP:0000662
4 microphthalmia 31 occasional (7.5%) HP:0000568
5 glaucoma 31 HP:0000501
6 retinal detachment 31 HP:0000541
7 abnormality of color vision 31 HP:0000551
8 microcornea 31 HP:0000482
9 pigmentary retinopathy 31 HP:0000580
10 dyschromatopsia 31 occasional (7.5%) HP:0007641
11 vitreous hemorrhage 31 HP:0007902
12 pulverulent cataract 31 HP:0010693
13 retinal arteriolar constriction 31 HP:0008043
14 abnormality of chorioretinal pigmentation 31 HP:0007661
15 retinal arteriolar occlusion 31 HP:0007985

Drugs & Therapeutics for Vitreoretinochoroidopathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Stem Cell Models of Best Disease and Other Retinal Degenerative Diseases. Active, not recruiting NCT02162953

Search NIH Clinical Center for Vitreoretinochoroidopathy

Genetic Tests for Vitreoretinochoroidopathy

Genetic tests related to Vitreoretinochoroidopathy:

# Genetic test Affiliating Genes
1 Vitreoretinochoroidopathy 28 BEST1
2 Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 28

Anatomical Context for Vitreoretinochoroidopathy

MalaCards organs/tissues related to Vitreoretinochoroidopathy:

38
Eye, Retina, Testes

Publications for Vitreoretinochoroidopathy

Articles related to Vitreoretinochoroidopathy:

(show all 19)
# Title Authors Year
1
Long-term changes in autosomal dominant vitreoretinochoroidopathy (ADVIRC). ( 28975401 )
2018
2
AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY: When Molecular Genetic Testing Helps Clinical Diagnosis. ( 29370033 )
2018
3
Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256Ga88>a88A Mutation in BEST1. ( 26771239 )
2016
4
Long-Term Macular Changes in the First Proband of Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Due to a Newly Identified Mutation in BEST1. ( 26849243 )
2016
5
Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC). ( 27653836 )
2016
6
Progressive Cone Dysfunction and Geographic Atrophy of the Macula in Late Stage Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC). ( 24564716 )
2014
7
BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies. ( 21072067 )
2011
8
Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome. ( 16458719 )
2006
9
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). ( 15452077 )
2004
10
A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma. ( 12543751 )
2003
11
Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree. ( 11585313 )
2001
12
Autosomal dominant vitreoretinochoroidopathy with normal electrooculogram in a German family. ( 9498121 )
1998
13
Autosomal dominant vitreoretinochoroidopathy. ( 9279944 )
1997
14
Histopathologic study of autosomal dominant vitreoretinochoroidopathy in a 26-year-old woman. ( 7487628 )
1995
15
Autosomal dominant vitreoretinochoroidopathy. Report of the third family. ( 8431155 )
1993
16
Electro-oculography in autosomal dominant vitreoretinochoroidopathy. ( 1444912 )
1992
17
Histopathologic study of autosomal dominant vitreoretinochoroidopathy. Peripheral annular pigmentary dystrophy of the retina. ( 2516300 )
1989
18
Autosomal dominant vitreoretinochoroidopathy (ADVIRC). ( 6689931 )
1984
19
Autosomal dominant vitreoretinochoroidopathy. ( 7065944 )
1982

Variations for Vitreoretinochoroidopathy

UniProtKB/Swiss-Prot genetic disease variations for Vitreoretinochoroidopathy:

71
# 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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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