Fluorescein angiography in potential carriers for choroideremia. An additional aid for final diagnosis, when funduscopy shows equivocal symptoms.
As an extension of a large pedigree with choroideremia, described by Kurstjens in 1965, a family will be presented. A daughter of an affected male presented with her two carrier daughters and her three unaffected sons. In one daughter, funduscopy did not reveal characteristics specific for the diagnosis of the carrier state for choroideremia. Special attention will be paid to the diagnostic value of fluorescein angiography for final diagnosis and genetic counseling.
D000293:Adolescent; D000328:Adult; D002648:Child; D002829:Choroid / Q000098:blood supply*; D003937:Diagnosis, Differential; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D009887:Ophthalmoscopy; D010375:Pedigree; D014603:Uveal Diseases / Q000175:diagnosis* / Q000235:genetics*; D014787:Vision Tests; D014792:Visual Acuity