This is a 68YO male with a likely diagnosis of choroideremia. Vision is remarkably 20/60 OD and 20/50 OS. Note the areas of patchy RPE and chorioretinal atrophy in both eyes.
Learning Points:
Choroideremia is an X-linked recessive chorioretinal dystrophy caused by a mutation in the CHM gene. Some female carriers can still develop choroideremia due to irregular inactivation of the X chromosome (lyonization) later in life.
Night blindness usually begins between the ages of 10 and 30, followed by peripheral visual field loss. Patchy RPE and chorioretinal atrophy initially appear in the mid-periphery, gradually spreading anteriorly and posteriorly. Eventually, the patient is left with only a small island of vision, narrowed retinal vessels, and optic atrophy.
