Burke M J, Choromokos E A, Bibler L, Sanitato J J
Ophthalmic Paediatr Genet. 1985 Dec;6(3):163-8. doi: 10.3109/13816818509087636.
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.
一名10岁女孩被诊断患有晚期脉络膜视网膜萎缩症。她视力下降、患有高度近视，并具有脉络膜视网膜萎缩症的典型眼底表现。她的视网膜电图、暗适应、视野和荧光素血管造影均异常；结果与脉络膜视网膜萎缩症相符。她的染色体研究显示，她在基因分型上是正常女性。对她的父母进行了眼科检查，结果正常。
