Tsui Irena, Chou Chai Lin, Palmer Neeco, Lin Chyuan-Sheng, Tsang Stephen H
Department of Ophthalmology, Jules Stein Eye Institute, University of California, Los Angeles, California, USA.
Curr Eye Res. 2008 Nov;33(11):1014-22. doi: 10.1080/02713680802484645.
To phenotype a family with RHO (Asp190Asn or D190N) dominantly inherited retinitis pigmentosa (RP) and to describe an approach to surveying affected families.
Four patients from a family with a history of autosomal dominant RP had complete clinical examinations and underwent full-field electroretinography (ERG), fundus autofluorescence (AF) imaging, and genetic testing. One patient had microperimetry (MP) mapping.
The patients' ages ranged from 6 years to 47 years. The proband, the father, had fundoscopic findings typical of RP. A small hyperfluorescent ring centered at the fovea was apparent on AF. MP showed preservation of central 7 degrees of visual field within this ring. The three children were all asymptomatic with visual acuity of 20/15 in each eye. One child had mild retinal pigment epithelium migration on fundoscopy; the other two children had normal fundoscopic examinations. Two children showed increased parafoveal AF. In the two affected children, average ERG b-wave implicit times were delayed in scotopic conditions, and maximal ERG tracings had abnormal waveforms. Genetic analysis confirmed that two of three asymptomatic children carried the D190N allele.
Patients with RHO (D190N) autosomal dominant retinitis pigmentosa (adRP) can show classic signs of RP on fundus examination and may be able to maintain good central visual acuity into adulthood. By combining clinical examination with AF imaging and electrophysiology, it is possible to offer presymptomatic clinical evaluation to families with this RP.
对一个患有RHO（Asp190Asn或D190N）显性遗传性视网膜色素变性（RP）的家系进行表型分析，并描述一种对受累家系进行调查的方法。
一个有常染色体显性RP病史的家系中的4名患者接受了全面的临床检查，并进行了全视野视网膜电图（ERG）、眼底自发荧光（AF）成像和基因检测。1名患者进行了微视野（MP）测绘。
患者年龄在6岁至47岁之间。先证者即父亲，眼底检查结果具有典型的RP特征。AF显示以中央凹为中心有一个小的高荧光环。MP显示该环内中央7度视野保存。3名儿童均无症状，每只眼睛的视力均为20/15。1名儿童眼底检查显示有轻度视网膜色素上皮迁移；另外2名儿童眼底检查正常。2名儿童显示黄斑旁AF增加。在2名受累儿童中，暗适应条件下平均ERG b波潜伏时延迟，最大ERG描记波形异常。基因分析证实3名无症状儿童中有2名携带D190N等位基因。
RHO（D190N）常染色体显性视网膜色素变性（adRP）患者在眼底检查时可表现出RP的典型体征，并且可能在成年期仍能保持良好的中心视力。通过将临床检查与AF成像和电生理检查相结合，有可能对患有这种RP的家系进行症状前临床评估。
