This patient has choroideremia, an X-linked recessive chorioretinal dystrophy caused by mutation in the CHM gene.
It is characterized by a pale appearing fundus with RPE and choroidal atrophy initially in the mid-periphery that gradually spread anteriorly and posteriorly.
Learning Points:
Patients with choroideremia often develop severe central and peripheral vision loss with night blindness. During later stages only a small island of preserved foveal tissue remains.
Female carriers can present with a wide range of phenotypes, ranging from asymptomatic rubella-like pigmentary changes to severe disease.
