Article
Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene.
Investigative ophthalmology & visual science - 1 Sept 2003
Go Sioe Lie, Maugeri Alessandra, Mulder Jef J S, van Driel Marc A, Cremers Frans P M, Hoyng Carel B
Abstract excerpt
PURPOSE: To investigate the clinical features and molecular causes of autosomal dominant rhegmatogenous retinal detachment (RRD) in two large families. METHODS: Clinical examination and linkage analysis of both families using markers flanking the COL2A1 gene associated with Stickler syndrome type 1, the loci for Wagner disease/erosive vitreoretinopathy (5q14.3), high myopia (18p11.31 and 12q21-q23), and...
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