Choroideremia is a pan-ethnic disorder caused by pathogenic variants in the CHM gene. It is inherited in an X-linked manner, and therefore males are affected more often and more severely than females. Affected males experience a progressive loss of vision, which begins with the peripheral field; central vision is lost between 50 and 70 years of age. Carrier females are usually unaffected, but may sometimes develop vision loss similar to male patients. There have been no reported genotype-phenotype correlations. Life expectancy is not reduced.
For information about carrier frequency and residual risk, please see the Expanded Carrier Screen brochure.