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Condition report · Ophthalmological

Choroideremia

Choroideremia is an inherited condition, mainly affecting males, in which the retina and the layer of blood vessels beneath it gradually waste away. It usually begins with night blindness in childhood, followed by slow loss of side vision.

A condition report looks for rare variants known to cause the conditions it covers.

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What your report covers

The condition we analyse

X-linked recessive · About 1 in 50,000 people.

An X-linked chorioretinal degeneration caused by changes in the CHM gene; female carriers usually have mild fundus changes and few symptoms.

What a diagnosis changes

Regular eye care supports low-vision planning, a genetic diagnosis is needed for gene-therapy trials, and female relatives can be offered carrier testing.

Genes analysed

Also known as

CHM; progressive choroidal atrophy; progressive tapetochoroidal dystrophy; Tapetochoroidal dystrophy; TCD

Includes 2 related subtypes ↓
  • choroideremia hypopituitarism
  • total central choroidal atrophy
MONDO:0010557OMIM 303100Orphanet 180MedGen 944

Limitations

  • Deletions of all or part of the CHM gene are a common cause of choroideremia. These need copy-number analysis and may be missed.

Other ophthalmological conditions

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