Choroideremia in a genotypically normal female. A case report.
A 10-year-old girl demonstrated advanced choroideremia. She had decreased visual acuity, high myopia, and characteristic fundus findings of choroideremia. Her ERG, dark adaptation, visual fields, and fluorescein angiogram were all abnormal; the results were consistent with choroideremia. Her chromosome studies revealed that she was a genotypically normal female. Her parents were examined ophthalmologically and found to be normal.
D000792:Angiography; D002648:Child; D002829:Choroid / Q000473:pathology*; D005260:Female; D005654:Fundus Oculi / Q000473:pathology; D006801:Humans; D007621:Karyotyping; D009216:Myopia / Q000209:etiology; D009755:Night Blindness / Q000209:etiology / Q000473:pathology; D010857:Pigment Epithelium of Eye / Q000473:pathology; D014603:Uveal Diseases / Q000235:genetics / Q000473:pathology; D014792:Visual Acuity