近亲结婚的视网膜色素变性患者遗传类型和临床表型分析  

Analysis of clinical phenotype and mode of inheritance in retinitis pigmentosa patients with consanguineous marriage

作　　者：容维宁[1] 盛迅伦[1] 刘雅妮[1] 

机构地区：[1]宁夏回族自治区人民医院宁夏眼科医院,银川750001

出　　处：《中华眼科杂志》2012年第10期893-897,共5页Chinese Journal of Ophthalmology

基　　金：国家自然科学基金（81160124）;2011年宁夏科技攻关重大项目（2011ZYSl75）

摘　　要：目的分析近亲结婚的视网膜色素变性患者遗传类型和临床表型。方法病例系列研究。选择宁厦回族自治区33个视网膜色素变性（RP）家系的143例成员，作为研究对象。所有患者均详细询问家族史及婚姻史，确定为近亲结婚家系，再进行全面的体检和眼部检查。分析患者视力、相干光断层扫描、视野及视网膜电图检测结果。结果33个RP家系中，20个（60．6％）家系有近亲结婚家族史；23例（16．1％）RP患者中，有4例（4个家系）属Usher综合征患者。20个近亲结婚家系均为常染色隐性遗传，其中回族家系7个（35．0％），汉族家系13个（65．O％）；一级表兄妹婚配15例，二级表兄妹婚配3例，其余2例为半表兄妹婚配。23例RP患者中，男性12例，女性11例；发病年龄（11．4±6．8）岁，就诊年龄（32．0±13．5）岁。最佳矫正视力低于0．6者18只眼（78．2％），其中13只眼（56．5％）的眼底表现为典型的RP，10只眼（43．5％）表现为无色素性RP。视野检查显示所有RP患者均有不同程度的周边视野缺损。相干光断层扫描显示黄斑区和周边神经上皮变薄，光感受器细胞层消失，黄斑中心凹厚度：右眼（186．14-78．7）μm，左眼（187．4±76．3）μm。结论宁夏回族自治区近亲婚配比例较高，以一级表兄妹婚配的形式最多见。近亲结婚家系的RP患者均为常染色隐性遗传。（中华眼科杂志，2012，铝：893-897）Objective To analyse the mode of inheritance and clinical characteristics of retinitis pigmentosa （RP） patients with consanguineous marriage. Methods RP patients were recruited for this study in Ningxia Eye Hospital from September 2009 to July 2011. All patients received complete ophthalmic examination. The mode of inheritence were determined based on family history and marriage history. Clinical features were characterized by complete ophthalmic examinations including visual acuity, macular OCT, visual field and electroretinogram （ERG）. Results A total of 143 individuals with RP （33 families） were recruited. Based on analysis of family history and marriage history, 20 RP families （23 patients ） had consanguineous marriage history accounted for 60. 6% RP families （16. 1% RP patients）. There were 4 patients （from 4 families） diagnosed as Usher syndrome. In 20 RP families with consanguineous marriage history, 7 families （35.0%） were Hui ethnieity and 13 families （65%） were Hart ethnicity. The marriages of 15 families were between first cousins and 3 families were between second cousins, only 2 families were between half cousins matrimony. Of 23 RP patients, 12 were males and 11 were females. The average age of onset was 11.4 ± 6.8 years and the average age of recruitment was （ 32.0 ± 13.5 ） years. The best-corrected visual acuity was less than 0.6 in 78.2% patients. According to the features of the fundus, 13 patients were classical retinitis pigmentosa and 00 patients were retinitis pigmentosa sine pigmento. Visual field examination showed that all patients had varying degrees of peripheral visual field defect. Retinal neuroepithelial layer of macular and peripheral retina became thinner and retinal photoreceptors were disappeared. The average thickness of macular fovea was （ 186. 1 ± 78.7 ） μm on right eyes and （ 187.4 ± 76.3） μm on left eyes. Conclusions The incidence of RP with consanguineous marriages was high inNingxia Region. The mode of inheritance of RP pat

关 键 词：视网膜炎 色素性 近亲 配偶 系谱 表型 

分 类 号：R774.1[医药卫生—眼科]