肾-视神经乳头缺损综合征一家系  

A family of renal coloboma syndrome

作　　者：李传宇 肖骏[1] Li Chuanyu;Xiao Jun(Department of Ophthalmology,Second Affiliated Hospital,Jilin University,Changchun 130012,China)

机构地区：[1]吉林大学第二医院,长春130012

出　　处：《中华眼科杂志》2021年第6期454-457,共4页Chinese Journal of Ophthalmology

基　　金：吉林省卫生专项(2020SCZT008)。

摘　　要：先证者为5岁男童,自幼双眼内斜视,眼部检查示:双眼视杯宽而深,有多发睫状视网膜血管自盘周呈放射状发出,左眼可见视网膜神经上皮脱离。对先证者父母及妹妹行眼科检查,其父自述自幼右眼视力极差,10年前有肾移植病史。眼部检查示先证者父亲右眼视盘增大,血管走行异常,左眼视盘大小正常,多发视网膜血管自盘周放射状发出,可见黄斑区及视盘周围视网膜劈裂,右眼黄斑区视网膜神经上皮浅脱离。先证者妹妹双眼视杯宽而深,血管走行大致正常,黄斑区无明显异常。肾脏彩超及尿常规检查示先证者及其妹妹均可见双侧肾脏钙化灶及肾盂分离,轻度蛋白尿。基因检测结果示:先证者及其父亲、妹妹均存在PAX2基因c.419_421delGGA杂合突变。结合上述检查结果,诊断为:肾-视神经乳头缺损综合征。The proband was a 5-year-old boy with binocular esotropia since childhood.Ocular examination showed the binocular optic cup was wide and deep excavated with radial emergence of the retinal vessels and retinal detachment was seen in the left eye.The father of the proband with worse vision of the right eye from a child and received a kidney transplant 10 years ago.Ocular examination showed large optic nerves with large optic cups of the right eye accompanied by retinal detachment in macular area.The left eye showed normal size of the optic disc and etinoschisis.Both nerves had anomalous vascular patterns.The sister of the proband showed binocular wide and deep optic cups,and the vascular course was normal.Renal color Doppler ultrasound and urine routine examination showed that the proband and his sister had bilateral renal calcification,pyelic separation and mild proteinuria.The results of gene detection showed heterozygous mutation(c.419_421delGGA)of the PAX2 gene in this family.Combined with the above examination results,the diagnosis was renal coloboma syndrome.

关 键 词：肾功能不全 膀胱输尿管返流 眼缺损 视神经 

分 类 号：R725.9[医药卫生—儿科]