Choroideremia is a generalized choroidal dystrophy, inherited as an X-linked recessive trait, characterized by diffuse and progressive degeneration of the retinal pigment epithelium and choriocapillaris. The disease is due to mutations in the CHM gene.

The condition usually starts at the equator and spreads centrally and peripherally, with a “salt and pepper” appearance. In established cases, the sclera and large choroidal blood vessels become exposed. In advanced cases, the fundus appears white, with total choroidal atrophy and exposure of the sclera.

Peripheral vision loss becomes prominent and often leads to legal blindness by the age of 40.

The fluorescein angiogram shows scalloped hypofluorescent areas of choriocapillary atrophy and brightly hyperfluorescent areas of patent choriocapillaries.

Differential Diagnosis of Peripapillary Choroidal Dystrophy

• Angioid streaks
• Bietti’s crystalline dystrophy
• Generalized choroidal dystrophy (early)
• Myopic degeneration
• Peripapillary pigmentary retinal degeneration
• Serpiginous choroidopathy