Pathological study in a female carrier of choroideremia.

Abstract

We present the pathological findings in one eye of a 68-year-old woman with choroideremia. There was widespread malformation of the outer receptor segments. A second retinal finding was patches of atrophy, involving loss of the retinal outer cell layer. The pigment epithelium was intact, although there were areas showing depigmentation of the cells. The choriocapillaris was present. The findings suggest that the primary defect in choroideremia lies at the retina-pigment epithelium interface. Possible mechanisms are discussed.