Choroideraemia

  View PDF

This article is best viewed on a PDF.

Choroideraemia is an X-linked recessive condition with progressive, bilateral atrophy of the choroid and overlying retinal pigment epithelium. Affected patients develop night blindness in childhood, progressive constriction of the visual fields in adulthood, and profound visual impairment later in life.

Symptoms

Night blindness (nyctalopia) is typically noted in boys in the first decade, but may be delayed up to age 30. Loss of peripheral vision often becomes evident in the teenage years. Central vision is usually severely impaired by middle age.