KEGG DISEASE: Vitreoretinochoroidopathy

KEGG

DISEASE: Vitreoretinochoroidopathy

Entry

H02078                      Disease

Name

Vitreoretinochoroidopathy

Subgroup

Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 (MRCS2)

Supergrp

Vitreoretinal degeneration [DS:H00805]

Description

Vitreoretinochoroidopathy (VRCP) is a rare, early-onset retinal dystrophy characterised by distinct bands of circumferential pigmentary degeneration in the peripheral retina and developmental eye defects. ADVIRC is caused by mutations in the bestrophin-1 (BEST1) gene. Bestrophin-1 is a transmembrane protein of the basolateral membrane of the retinal pigment epithelium (RPE) that acts as a chloride channel.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
  Disorders of the eyeball posterior segment
   Disorders of the retina
    9B70  Inherited retinal dystrophies
     H02078  Vitreoretinochoroidopathy

Gene

BEST1 [HSA:7439] [KO:K13878]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Carter DA, Smart MJ, Letton WV, Ramsden CM, Nommiste B, Chen LL, Fynes K, Muthiah MN, Goh P, Lane A, Powner MB, Webster AR, da Cruz L, Moore AT, Coffey PJ, Carr AF

Title

Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC).

Journal

Sci Rep 6:33792 (2016)
DOI:10.1038/srep33792

Reference

Authors

Burgess R, MacLaren RE, Davidson AE, Urquhart JE, Holder GE, Robson AG, Moore AT, Keefe RO, Black GC, Manson FD

Title

ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing.

Journal

J Med Genet 46:620-5 (2009)
DOI:10.1136/jmg.2008.059881

Reference

Authors

Michaelides M, Urquhart J, Holder GE, Restori M, Kayali N, Manson FD, Black GC

Title

Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.

Journal

Am J Ophthalmol 141:418-20 (2006)
DOI:10.1016/j.ajo.2005.09.018

LinkDB

» Japanese version

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