KEGG DISEASE: 硝子体網脈絡膜症

DISEASE: 硝子体網脈絡膜症

エントリ

H02078

名称

硝子体網脈絡膜症

下位グループ

小角膜・錐体杆体ジストロフィー・白内障および後部ぶどう腫 2 (MRCS2)

上位グループ

硝子体網膜変性 [DS:H00805]

概要

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.

カテゴリ

神経系疾患

階層分類

ICD-11 による疾患分類 [BR:jp08403]
09 視覚系の疾患
  眼球後極部の疾患
   網膜の疾患
    9B70  遺伝性網膜ジストロフィ
     H02078  硝子体網脈絡膜症

病因遺伝子

BEST1 [HSA:7439] [KO:K13878]

リンク

ICD-11:

9B70

MeSH:

C536352

OMIM:

193220

文献

PMID:27653836

著者

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

タイトル

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

雑誌

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

文献

PMID:18611979

著者

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

タイトル

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

雑誌

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

文献

PMID:16458719

著者

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

タイトル

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

雑誌

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

LinkDB

» English version

DBGET integrated database retrieval system