Choroideremia

Overview

What is choroideremia?

Choroideremia is a genetic disease of the eye. This condition results in degeneration, or loss of function, of the light-sensing tissue (retina) and the vascular layer (choroid) of the eyes. The degeneration is progressive, meaning that it worsens over time, and results in vision loss.

Choroideremia is most often diagnosed in males. Some females may have mild symptoms of choroideremia in late adulthood and, only in rare cases, are females as severely affected as males.

References
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Are there other names for choroideremia?

How often is choroideremia diagnosed?

Are there abbreviations for choroideremia?

What is choroideremia called most often by doctors?

Are there other names for choroideremia?

Choroideremia is the most common name for the condition. Rarely, choroideremia may also be referred to as progressive tapetochoroidal dystrophy (TCD) or choroidal sclerosis.

How often is choroideremia diagnosed?

The exact number of people diagnosed with choroideremia is unknown. It is estimated that 1 in 50,000 to 1 in 100,000 males has choroideremia.

References
  • van den Hurk JA, Schwartz M, van Bokhoven H, et al.Molecular basis of choroideremia (CHM): mutations involvingthe Rab escort protein-1 (REP-1) gene. Hum Mutat 1997;9:110-7.
  • MacDonald IM, Hume S, Chan S, et al. Choroideremia. 2003 Feb 21 [Updated 2015 Feb 26]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1337
  • Khan KN, Islam F, Moore AT, Michaelides M. Clinical and genetic features of choroideremia in childhood. Ophthalmology 2016;123:2158-2165.
Are there abbreviations for choroideremia?

Choroideremia may be abbreviated as CHM.

What is choroideremia called most often by doctors?

Choroideremia is most often called by its full name by doctors. If an eye doctor is speaking more generally about choroideremia, it may be referred to as a retinal degeneration or retinal disorder.

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