Rod and Cone Opin Milocalization in an Autopy Eye From a Carrier of X-linked Retiniti Pigmentoa With a Gly436Ap Mutation in the RPGR Gene

Purpoe We invetigated whether opin milocalization occur in photoreceptor in a female carrier of X-linked retiniti pigmentoa with a Gly436Ap mutation in the retiniti pigmentoa GTPae regulator gene (RPGR). Deign Hitologic finding in autopy eye from a carrier were compared with thoe from a normal female. Method Frozen retinal ection from the periphery of one eye of the carrier and the normal were tained with antibodie againt either human red or green opin, blue cone opin, or rhodopin and labeled with fluorochrome conjugated econdary antibodie. Cell nuclei were countertained with Hoecht dye. Fellow eye were evaluated with light microcopy. Reult Fluorecent labeling howed milocalized cone and rod opin in photoreceptor cell only in the carrier. The carrier alo howed ome lo of photoreceptor nuclei. Concluion A defect in trafficking of opin to outer egment exit in a carrier with the RPGR Gly436Ap mutation.