A Thr17Met mutation is associated with an unusual retinochoroidopathy in an autosomal dominant pedigree.

Abstract

To report the results of molecular genetic analysis for a proband with unusual regionalized retinochoroidopathy in an autosomal dominant pedigree originally reported as a previously undescribed condition. Genomic DNA was obtained from the proband's leukocytes and was analyzed by Carver Laboratories at the University of Iowa (Iowa City) specifically to look for variants in genes associated with autosomal dominant retinitis pigmentosa. A probable high-penetrance disease-causing sequence variation in the rhodopsin gene, a heterozygous cytosine-to-thymine ACG>ATG nucleotide substitution resulting in a threonine to methionine (Thr17Met) amino acid change, was detected. This variant is associated with autosomal dominant retinitis pigmentosa. Findings of molecular genetics analysis of this unusual regionalized retinochoroidopathy support the diagnosis of a mild, delimited form of autosomal dominant retinitis pigmentosa.