Purpose: To report two Japanese patients with choroideremia, one male and o
ne heterozygous female, who developed subretinal neovascular membrane and/o
r subretinal fibrosis in the intermediate stage of the disease, and, in add
ition, to describe marked clinical manifestation in a heterozygous carrier
female,
Method: Two patients were examined by slip-lamp biomicroscopy, ophthalmosco
py and other ophthalmoloscopic examinations.
Results: Two cases showed moderately advanced ophthalmoscopic and functiona
l abnormalitities compatible with choroideremia, and in addition, subretina
l lesion in the fovea and/or midperiphery,
Conclusion: The intermediate stage of choroideremia may occasionally be com
plicated with choroidal neovascular membrane in the fovea, the midperiphery
, or both, which resolves spontaneously and results in subretinal fibrous s
carring, The occurrence of this complication in the fovea leads to episodic
central visual loss, while midperipheral lesion may remain unrecognized.