A 41-year-old male patient diagnosed with choroideremia. Choroideremia is an X-linked hereditary dystrophy characterized by widespread and progressive degeneration of the choriocapillaris, RPE, and photoreceptors. Choroideremia is caused by a mutation in the CHM gene. Since it is X-linked, males with this mutation are severely affected. Due to variable X inactivation, females may be asymptomatic carriers or rarely affected by the dystrophy.
In color fundus photographs, atrophy severe enough to reveal sclera and a central island of healthy retina can be seen. However, autofluorescence images show the boundaries of this healthy retinal island (white arrows) much more clearly. The well-defined polygonal geometric shape of this island is typical of choroideremia.
Credit: M. Giray Ersoz, MD, FEBO
Biruni University School of Medicine, Department of Ophthalmology, Istanbul, Turkey
Instagram accounts: @retina.review and @retina.dr.girayersoz
Outer retinal tubules (red arrows), small cysts, and areas of atrophy are present on OCT of both eyes, as well as a thick ERM on OCT of the left eye.
