Dominant retinitis pigmentosa. A clinicopathologic correlation

Abstract

Autopsy and clinical studies were performed in a family with dominantly inherited retinitis pigmentosa. The eyes of two senior members of the family were obtained for histopathologic study, while three other family members were studied clinically. All family members studied had visual field loss, nyctalopia, and a spectrum of pigmentary disruption. There was variable expressivity of pigmentary migration, foveal atrophic changes, surface wrinkling retinopathy, choriocapillaris atrophy, drusen, vitreous synchysis, and optic pallor. Three specific zones of retinal and retinal pigment epithelial changes were identified histopathologically. A clinicopathologic correlation is presented.