Phenotype-Genotype Correlations in Autosomal Dominant Retinitis Pigmentosa Caused by RHO, D190N
Phenotype-Genotype Correlations in Autosomal Dominant Retinitis Pigmentosa Caused by RHO, D190N
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DOI：
10.1080/02713680802484645
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发表时间：
2008-01-01
影响因子：
2
通讯作者：
Tsang, Stephen H.
中科院分区：
文献类型：
--
作者：
Tsui, Irena;Chou, Chai;Tsang, Stephen H.
目的：目的对一个显性遗传性视网膜色素变性（RP）家系进行表型分析，并描述一种调查受影响家系的方法。研究方法：来自一个有常染色体显性遗传RP病史的家族的四名患者进行了完整的临床检查，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例患者进行了微视野（MP）标测。结果：患者年龄6 ~ 47岁。先证者，父亲，眼底镜检查结果典型的RP。AF上可见一个以中央凹为中心的小的高荧光环。MP显示在该环内保留了中心7度视野。三名儿童均无症状，每只眼睛的视力为20/15。1例患儿眼底镜检查有轻度视网膜色素上皮移行，另外2例患儿眼底镜检查正常。两个孩子表现出增加旁AF。在这两个受影响的儿童，平均ERG b波隐式时间延迟在暗视条件下，最大的ERG描记波形异常。遗传分析证实，三个无症状的儿童中有两个携带D190 N等位基因。结论：患有RHO（D190 N）常染色体显性视网膜色素变性（adRP）的患者在眼底检查时可显示RP的经典体征，并且可能能够在成年后保持良好的中心视力。通过临床检查与AF成像和电生理学相结合，有可能为患有这种RP的家庭提供症状前的临床评估。
Purpose: To phenotype a family with RHO (Asp190Asn or D190N) dominantly inherited retinitis pigmentosa (RP) and to describe an approach to surveying affected families. Methods: 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. Results: 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. Conclusions: 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.