Contributor: Jeffrey D. Welder, MD
Photographer: Toni Venckus, CRA
|right eye||left eye|
18-year-old male with molecularly confirmed choroideremia. Genetic testing revealed the prescence of a hemizygous deletion of exons 1 and 2 of the CHM gene. Note that there is preservation of the choroid and retinal pigment epithelium (RPE) in the macula with pigment mottling centrally and peripheral loss of the choroid and RPE. This patient had 20/20 vision in both eyes with constricted visual fields.
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