Definition of Choroideremia

Reviewed on 9/2/2021

Choroideremia is a rare genetic disorder that affects sight. Choroideremia is caused by one of several different mutations in the CHM gene. The CHM gene encodes a protein known as REP1 (RAB escort protein 1), which is involved in targeting transport of vesicles (small sacs of substances) into, out of, and within cells. Signs and symptoms include difficulty seeing in the dark (night blindness), progressive loss of peripheral vision, and finally, tunnel vision. Signs and symptoms can vary among those affected.

Choroideremia is inherited in an X-linked recessive manner, meaning that it is found mostly in males. Females who have an altered gene on one of their X chromosomes are carriers for that disorder and typically do not have symptoms.

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References
"Choroideremia." National Organization for Rare Disorders. <https://rarediseases.org/rare-diseases/choroideremia/>.

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