Ocular findings in a family with autosomal dominant retinitis pigmentosa and a frameshift mutation altering the carboxyl terminal sequence of rhodopsin

Abstract

A family is described in which an 8 base pair deletion (nucleotides 5252-5259, codons 341-343) of the rhodopsin gene cosegregates with autosomal dominant retinitis pigmentosa (adRP). The deletion results in a shift in the reading frame, causing a rhodopsin molecule extended by one residue and substantially altered at the carboxyl terminus. Phenotypic expression is relatively mild. In affected members, night blindness did not occur before the age of 16, and late onset of visual field loss was consistently reported. Even older individuals (59 and 76 years) had preserved central islands in the visual field; a younger female patient had normal visual fields until the age of 34. ERG and psychophysical tests showed well preserved cone function at stages of virtually abolished rod function. Phenotypic differences and similarities between this form of adRP and others associated with mutations at the carboxyl terminus of the rhodopsin molecule are discussed. The cause of RP by mutations in this region remains to be clarified.