Choroideremia associated with subretinal neovascular membrane

Abstract

Purpose: To report two Japanese patients with choroideremia, one male and one heterozygous female, who developed subretinal neovascular membrane and/or subretinal fibrosis in the intermediate stage of the disease, and, in addition, to describe marked clinical manifestation in a heterozygous carrier female.

Method: Two patients were examined by slip-lamp biomicroscopy, ophthalmoscopy and other ophthalmoloscopic examinations.

Results: Two cases showed moderately advanced ophthalmoscopic and functional abnormalitities compatible with choroideremia, and in addition, subretinal lesion in the fovea and/or midperiphery.

Conclusion: The intermediate stage of choroideremia may occasionally be complicated with choroidal neovascular membrane in the fovea, the midperiphery, or both, which resolves spontaneously and results in subretinal fibrous scarring. The occurrence of this complication in the fovea leads to episodic central visual loss, while midperipheral lesion may remain unrecognized.