Background Congenital cataract is the major cause of blindness in children with plentiful clinical manifestations and closely linked with genetics. Objective Present study was to investigate the classification of congenital cataract in Yunnan province.Methods The manifestation characteristics of 184 eyes of 116 patients with congenital cataract in Yunnan province were analyzed.The relationship of performance of various types of congenital cataract between phenotype and hereditary feature were explored. Results All of the 116 congenital cataract eyes from 116 patients were divided into ten types based on the clinical appearance,including the complete cataract,nuclear cataract,posterior polar cataract,anterior polar cataract,coralliform cataract,coronary cataract,pulverulent cataracts,lamellar cataract and blue cataract.Bilateral nuclear cataract and unilateral entire cataract is most prevalent in these patients.Blue cataract and coralliform cataract belong to the less types.Forty-four in 116 cases were found to have the hereditary history and determined as autosomal dominant inheritance.Sporadic cases were determined in 72 cases.Conclusions The analysis of phenotype of the hereditary congenital cataract offers some clues to the classification of congenital cataract.%背景 先天性白内障是儿童主要的致盲眼病之一,其临床表现多样,并与遗传学有着密切联系.目的 探讨云南省先天性白内障患者的临床形态特点.方法 回顾性分析2005年1月至2010年1月在云南省红十字会医院眼科诊断和治疗的先天性白内障患者116例184眼,裂隙灯下检查患眼前后节,根据晶状体混浊的部位、形态等进行分类,分析晶状体混浊的形态学特点及各类型的发病情况,并探讨先天性白内障表现型和遗传型之间的关系.结果116例患者按晶状体混浊的临床形态特点分为10种类型,包括全白内障、核性白内障、后极性白内障、前极性白内障、缝性白内障、珊瑚状白内障、花冠状白内障、粉尘状白内障、板层白内障和蓝色白内障.所有患眼中核性白内障最多(双眼16例32眼,单眼4例4眼),蓝色白内障(单眼1例1眼)、珊瑚状白内障(双眼2例4眼,单眼4例4眼)这两型少见.双眼发病者以核性白内障最多见(16例32眼),单眼发病者全白内障最为多见(8例8眼).116例患者中为常染色体显性遗传者44例,散发病例72例.结论具有遗传性的先天性白内障的位置、大小、形态都有着十分丰富的表现型,这些表现型的分析可以为遗传类型的确定提供线索,并有针对性地进行致病基因筛查.
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