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GENATLAS PHENOTYPE

last update : 16-12-2009

Symbol	ADVIRC
Location	11q12.3
Name	vitreoretinochoroidopathy
Corresponding gene	BEST1
Main clinical features	slowly progressive vitreoretinal degeneration characterised by a peripheral retinal circumferential hyperpigmented band, punctuate white retinal opacities, fibrillar condensation of the vitreous, vascular abnormalities and neovascularisation developmental anomaly of the anterior segment predisposing to angle closure glaucoma, early adult-onset cataract, and typical fundus appearance of a broad post-oral circumferential band of atrophy and pigmentation abnormal electro-oculogram (EOG) light rise
Genetic determination	autosomal dominant
Function/system disorder	eye
Type	disease

Remark(s)

mutation that alter pre-mRNA splicing (PMID: 18611979)) intra-familial phenotypic variability Optic nerve dysplasia and iris dysgenesis are also observed (PMID:21072067))