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CHOROIDEREMIA

24 Apr 2019

Abstract excerpt

PURPOSE: Choroideremia is an incurable, X-linked, recessive retinal dystrophy caused by loss of function mutations in the CHM gene. It is estimated to affect approximately 1 in 50,000 male patients. It is characterized by progressive degeneration of the retinal pigment epithelium, choroid, and photoreceptors, resulting in visual impairment and blindness. There is an unmet need in choroideremia, because currently,...

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PMID: 31021898
DOI: 10.1097/iae.0000000000002553

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