Journal article
BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies
Abstract
PurposeTo describe the spectrum of phenotypic characteristics of BEST1-related autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a family with p.V86M mutation.MethodsA retrospective review of the clinical, psychophysical, and electrophysiological phenotypes of six subjects with ADVIRC. Five family members were sequenced for mutations in the BEST1gene.ResultsA heterozygous change, p.V86M (c.256G>A), was identified in the BEST1gene in the …
Authors
Vincent A; McAlister C; VandenHoven C; Héon E
Journal
Eye, Vol. 25, No. 1, pp. 113–118
Publisher
Springer Nature
Publication Date
1 2011
DOI
10.1038/eye.2010.165
ISSN
0950-222X