Choroideremia

Choroideremia is a rare inherited condition that causes progressive loss of the light-sensing cells of the retina and the blood vessel layer beneath it, gradually reducing vision.

Common symptoms

Night blindness in childhood, followed by shrinking side vision over many years, and eventually loss of central vision.

Description

Choroideremia is an X-linked genetic condition caused by changes in the CHM gene. It almost always affects men severely, while women who carry the gene may have milder changes in the retina and usually keep good vision.

The first sign is usually difficulty seeing in dim light during childhood. Over time, the visual field narrows as the retina and underlying choroid layer break down, and central vision is typically affected later in life.

There is no routine treatment yet, but choroideremia is a major focus of gene therapy research, and people with a confirmed genetic diagnosis may be eligible for clinical trials. Low vision aids, good lighting, and mobility support can help day-to-day living at every stage.