Hitopathologic tudy of variation in everity of retiniti pigmentoa due to the dominant rhodopin mutation Pro23Hi

PURPOE: To compare hitopathologic finding in an autopy eye of an 87-year-old woman with retiniti pigmentoa and the rhodopin mutation Pro23Hi with finding in an autopy eye of a 77-year-old female relative (firt couin) with retiniti pigmentoa and the ame mutation. DEIGN: Hitopathologic tudy. METHOD: One eye from each patient wa prepared for light and electron microcopy within 5 hour after death. Photoreceptor nuclear count were performed. REULT: Photoreceptor degeneration and intraretinal bone picule pigmentation were evident in both cae. The younger patient had more extenive photoreceptor lo and more intraretinal pigmentation than her older relative. CONCLUION: A marked variation in the extent of retinal degeneration can be een in two relative with retiniti pigmentoa and rhodopin, Pro23Hi. Thi tudy upport the idea that factor other than the primary gene defect are reponible for the everity of thi condition.