Hitopathologic tudy of X-linked cone-rod dytrophy (CORDX1) caued by a mutation in the RPGR exon ORF15

Purpoe To evaluate the donor retina of a patient with X-linked cone-rod dytrophy caued by an RPGR exon ORF15 mutation. Deign Hitopathologic tudy of the retina. Method The eye of a 69-year-old man wa fixed at 1.6 hour potmortem and proceed for hitopathology and immunocytochemitry. Reult Groly, the macula wa atrophic with a bullʹ-eye appearance. The remaining retina howed potmortem edema but no intraretinal pigment. Microcopically, the macular retinal pigment epithelium wa abent focally and had pigmentary change elewhere. Cone and rod were abent from the perifovea and reduced with hortened outer egment elewhere in the macula. In the remainder of the retina, cone but not rod were reduced and all photoreceptor outer egment were hortened. Concluion The abnormalitie in both cone and rod photoreceptor confirm the importance of RPGR in both cell type but leave unreolved how variou exon ORF15 mutation lead to different clinical phenotype.