散发性视网膜色素变性的流行病学及临床表型特征调查

Epidemiological characteristics and clinical phenotype of sporadic retinitis pigmentosa

背景视网膜色素变性（aP）是一种累及视网膜光感受器细胞及色素上皮细胞的单基因遗传性致盲性眼病，发病机制及临床特征复杂，目前对其临床表型特征及流行病学调查的研究较少，尤其是散发性RP患者。目的了解散发性RP的流行病学及临床表型特征，为临床诊疗提供可靠的依据。方法采用前瞻性队列研究设计。纳入2010年7月1日至2011年11月10日在第三军医大学西南眼科医院确诊为散发性RP的患者130例，对其进行问卷调查和临床检查，包括检眼镜下眼底检查、验光检查、最佳矫正视力（BCVA）、视野、视网膜电图（ERG）和彩色眼底照相检查，对各种类型的RP临床特征进行分型。结果共收集散发性RP患者130例，其中男66例，女64例；平均年龄（36．9±14．4）岁，平均发病年龄（21．2±18．4）岁；有家族近亲结婚史者7例，占5．38％；合并全身疾病者13例，占10．00％；RP病例中从事户外工作者44例，占33．85％；从事户内工作者86例，占66．15％；眼底分型中最常见的是典型型RP89例，占68．5％，其次是中心性RP16例，占12．3％，无色素性RP16例，占12．3％；全视野ERG检查五项反应均记录不到波形99例，占76．15％。发现典型型RP患者夜盲史最长，中心性RP患者BCVA最差。结论本研究结果发现散发性RP发病年龄以≤10岁组最高，其主要临床表型变异大、分型多、诊断特异性差，但全视野ERG结果有一定的规律可循。

Background Retinitis pigmentosa （RP） is a group of progressive monogenic inheritance disease. Seldom epidemiology is performed to summarize the varied clinical phenotypes, especially some sporadic cases with untypical genetic history. Objective The aim of this survey was to investigate the clinical epidemiological characteristics and phenotype of sporadic RP. Methods A prospective cohort study was designed. A survey of a series of clinically diagnosed sporadic primary RP patients was conducted at the Southwest Eye Hospital from July 2010 to November 2011. A total of 130 patients that matched the inclusion criteria were enrolled in this survey. Clinical ocular examinations and questionnaire surveys were given, including ophthalmoscopic examination, best corrective visual acuity （BCVA） , perimetry and Ganzfield electroretinogram （ERG） and color fundus photo. RP with different phenotypes were classified. Results A total of 130 sporadic RP patients were collected in this survey. Of them,66 were male and 64 were female with a mean age of （36. 9＋ 14.4） years. The average onset age of these subjects was （21.2＋18.4） years. Seven （5.38%）patients had consanguineous marriage history, and 13 （ 10. 00% ） patients had systemic disease. Forty-four （33.85%） patients had outdoor jobs, and 86 （66.15%） worked indoor. Eighty-nine patients had typical RP （68.5%） , and the number of patients that developed central RP and sine pigmento RP were 16 （12. 3% ） and 16（ 12. 3% ） ,respectively. An absence of aand b-waves in full-field ERG was detected in 99 （76.15%） cases. The longest duration of night blindness was identified in typical RP patients and the lowest BCVA in central RP patients. Conclusions The age at first onset is early in sporadic RP. There are wide variations in different types of RP,but the ERG outcome is specific for all RP types.