This site uses tracking information. Visit our privacy policy. Click to agree to this policy and not see this again.

Ophthalmology and Visual Sciences



Category(ies): Inherited Eye Disease, Retina, Vitreous
Contributor: Jeffrey D. Welder, MD
Photographer: Toni Venckus, MD
Posted: June 17, 2013

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.

OMIM #303100"