purpose. Pigmented paravenous chorioretinal atrophy (PPCRA) is an unusual retinal
degeneration characterized by accumulation of pigmentation along retinal veins. The
purpose of this study was to describe the phenotype of a family with PPCRA, determine the
mode of inheritance, and identify the causal mutation. methods. Ophthalmic examination
was performed on seven family members and serially detailed in the proband over a 3-year
period. Blood samples were collected and DNA extracted. All 12 coding exons and the 5 …

Six patients (three men and three women, ranging in age from 19 to 65 years) with
pigmented paravenous chorioretinal atrophy, a rare disorder of unknown origin, were
studied for three-to 21-year periods. The diagnosis was made on the basis of the distinctive
fundus appearance of bilateral, symmetrical bone corpuscular pigment accumulation
exclusively along the distribution of the retinal veins. Although the fundus abnormalities can
be mild or severe, retinal function tests indicated that this is a geographic and not a …