Abstract
To evaluate the donor retina of a patient with X-linked cone-rod dystrophy caused by an
RPGR exon ORF15 mutation.
Histopathologic study of the retina.
The eye of a 69-year-old man was fixed at 1.6 hours
postmortem and processed for histopathology and immunocytochemistry.
Grossly, the macula was atrophic with a bull's-eye appearance. The remaining retina showed
postmortem edema but no intraretinal pigment. Microscopically, the macular retinal pigment epithelium was absent focally and had pigmentary changes elsewhere. Cones and rods were absent from the perifovea and reduced with shortened outer segments elsewhere in the macula. In the remainder of the retina, cones but not rods were reduced and all photoreceptor outer segments were shortened.
The abnormalities in both cone and rod photoreceptors confirm the importance of
RPGR in both cell types but leaves unresolved how various exon ORF15 mutations lead to different clinical phenotypes.
