There is no effective treatment. The gene for choroideremia is found on the small segment of the long arm of the X chromosome, specifically the Xq21 band. Thus, choroideremia may be a generalized disorder like gyrate atrophy. The protein coded by the gene may be a site-specific enzyme that attaches 20 carbon isoprenoid groups to cysteine residues on proteins that regulate vesicular traffic in cells. Female carriers exhibit a diffuse pigment granularity or even pigment clumps in the midperipheral that is non-progressive.
Carriers have normal visual fields, normal ERGs, and normal acuity.
The various choroidal degenerations can mimic the appearance of choroideremia. Albert DM and Jakobiec FA Eds. Cremers FPM, et al. Cloning of a gene that is rearranged in patients with choroideremia. W Freedman, Ed.