Choroideremia in a genotypically normal female. A case report.

Autor: Burke MJ, Choromokos EA, Bibler L, Sanitato JJ
Jazyk: angličtina
Zdroj: Ophthalmic paediatrics and genetics [Ophthalmic Paediatr Genet] 1985 Dec; Vol. 6 (3), pp. 163-8.
DOI: 10.3109/13816818509087636
Abstrakt: 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.
Databáze: MEDLINE