University of Iowa Health Care

Ophthalmology and Visual Sciences

Photo 8

Q1: An 18-year-old male with this fundus appearance has a maternal uncle with poor vision. What is the most likely diagnosis and what gene is involved?

  • Choroideremia, which is inherited in an x-linked recessive fashion, is caused by a mutation in the CHM gene.

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right eye left eye
Choroideremia, right eye Choroideremia, lefteye

last updated: 9/18/2013
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