Cheung Marsha C, Nune George C, Wang Min, McTaggart Kerry E, MacDonald Ian M, Duncan Jacque L
University of California School of Medicine, San Francisco, California 94143-0730, USA.
Am J Ophthalmol. 2004 Jan;137(1):189-91. doi: 10.1016/s0002-9394(03)00783-9.
To investigate severe unilateral vision loss in a choroideremia carrier.
Case report.
Ocular examination, genetic testing, Humphrey visual fields, full-field and multifocal (mf) electroretinogram (ERG) tests were used to study a family with choroideremia.
In a carrier with unilateral central vision loss, mfERG showed severely reduced amplitudes which correlated with a band of retinal pigment epithelial and choroidal atrophy in the macula, a dense central scotoma on Humphrey visual fields testing, and decreased ERG amplitudes.
Multifocal ERG may be a sensitive tool to measure functional abnormalities in choroideremia carriers. Mosaic inactivation of the normal gene may cause expression of the mutation with severe vision loss in choroideremia carriers.
研究一名脉络膜视网膜病变携带者的严重单侧视力丧失情况。
病例报告。
采用眼部检查、基因检测、 Humphrey视野检查、全视野及多焦（mf）视网膜电图（ERG）检查对一个患有脉络膜视网膜病变的家系进行研究。
在一名单侧中心视力丧失的携带者中，多焦视网膜电图显示振幅严重降低，这与黄斑区视网膜色素上皮和脉络膜萎缩带相关，Humphrey视野检查显示有致密的中心暗点，视网膜电图振幅降低。
多焦视网膜电图可能是检测脉络膜视网膜病变携带者功能异常的敏感工具。正常基因的镶嵌失活可能导致脉络膜视网膜病变携带者中突变的表达及严重视力丧失。
