Hitologic tudy of retiniti pigmentoa due to a mutation in the RP13 gene (PRPC8): comparion with rhodopin Pro23Hi, Cy110Arg, and Glu181Ly

Purpoe To evaluate the retina in autopy eye from patient over age 60 with autoomal dominant retiniti pigmentoa and a mutation in the RP13 gene (deignated a PRPC8, Arg2310Gly), rhodopin Pro23Hi, rhodopin Cy110Arg, or rhodopin Glu181Ly. Deign Hitologic tudy of the retina. Method All eye were prepared for electron microcopy within 12 hour after death. Reult All eye howed lo of rod photoreceptor. Remaining cone howed perinuclear membranou wirl, incluion bodie in the inner egment, and hortened or abent outer egment depite cauation by variou gene defect. Concluion The comparable hitologic finding in thee four cae ugget a final common pathway leading to photoreceptor cell death in thee dominant form of retiniti pigmentoa.