【摘要】 目的探讨一个视网膜色素变性合并近视家系的临床表现及遗传学特征。方法在获得知情同意后对该家系所有能够到场的成员进行病史采集和眼部体检(包括眼底镜检查),对疑患病成员进行视网膜功能和形态学检查,对已故的或不能到场的家系成员的眼病情况进行追溯,绘制家系图。家系共有57名成员,其中直系成员42名。结果直系成员42名中含患者21例,患者临床表现为夜盲、近视、眼底色素沉着、血管细、视盘色淡,视野向心性缩窄甚至呈管状,暗适应视网膜电图显示a、b波振幅明显下降甚至熄灭。家系共5代,除第Ⅴ代外,Ⅰ-Ⅳ代各有1～11例患者,特点为男性患者的女儿全部患病、男性患者的母亲都是患者。结论本家系为原发性视网膜色素变性合并近视家系,基本符合X连锁显性遗传规律。更多还原

【Abstract】 Objective To investigate the clinical and hereditary characteristics of a Chinese family with retinitis pigmentosa combined with myopia.Methods After informed consent,the family tree was pictured according to clinical findings and consanguineous or marital relationship.Medical records were collected and ocular examinations including funduscopy were taken in all present members;The suspected members were treated with retinal function and morphologic examination.Those,who were deceased or absent,were retrospected to determine whether they were affected.There were 57 members in this family,and of which were 42 linearl relations.Results There were 21 affected persons in 42 lineal relations.Clinical manifestations were nyctalopia,myopia,ocular fundus pigmentation,slender blood vessel,light color optic disc,centrality stenosis or even tubiform visual field.Dark adaptive electroretinogram showed significant decrease or extinction about the amplitude of a-and b-wave.There were 5 generations in the family with 1 to 11 affected persons in each generation except generation Ⅴ.The hereditary characteristic was that all daughters of,and mother of a male patient were affected.Conclusion It is a family of primary retinitis pigmentosa combined with myopia.Its hereditary type is basically consistent with X-linked dominant heredity.更多还原