PAX6基因突变至先天性无虹膜一家系的临床相关性研究

Clinical research of family congenital aniridia caused by PAX6 mutation

目的探讨PAX6基因突变引起先天性无虹膜症眼部及全身疾病发病的规律。方法对家系成员进行详细的视力检查、裂隙灯检查、前房角检查、眼底检查及眼压测量;应用核磁共振(MRI)技术对该家系的18例带有PAX6突变基因的患者和家系中6名正常人及人群中与该家系年龄段匹配的正常人进行脑部结构的扫描和应用CT技术进行脑结构的扫描;口服葡萄糖耐受实验;家系所有成员及与家系中患者年龄相当的对照组人员,空腹12 h以上,抽取静脉血6 mL,口服葡萄糖75 g后分别抽取0.5 h和2 h的静脉血各6 mL,分离血清,对所有血样测定葡萄糖水平。家系成员进行鼻内窥镜检查和CT扫描。结果该家系患者除无虹膜外,还合并多种眼部疾病,随年龄增长眼部并发症逐渐增多,视力逐渐下降甚至失明;家系大部分患者表现有不同程度的脑部结构异常,且年龄越小的患者其胼胝体的变性萎缩越轻,随年龄增长胼胝体的变性萎缩加重;该家系中所有30岁以上的患者均有不同程度的糖耐量异常甚至糖尿病;该家系患者有鼻结构异常或鼻窦炎,患病率明显高于正常人群。结论PAX6基因突变所致先天性无虹膜症不是独立的眼科疾病,而是以无虹膜为首发症状,同时合并多种全身疾病的一种综合征。

Objective To investigate the eye diseases and general diseases in family congenital aniridia caused by PAX6 mutation. Methods Ophthalmic physical examinations were done in all members of a congenital aniridia family, including visual acuity, slitlamp examination, angle of anterior chamber, ocular fundus, and intraocular pressure test. Magnetic resonance imaging（MRI） was used to scan the brain structures of 18 affected patients with PAX6 mutation and 6 normal controls in a large pedigree and age-matching healthy members. Nasal structures were scanned with CT in the same people. There was 6 mL blood from peripheral vein was collected from all members of family congenital aniridia and age-matching controls at absolute diet for at least 12 hours and at haffan hour and 2 hours after 75 g glucose was taken orally. All members of the family were taken nasendoscopy and CT scan. Results The affected patients suffer not only from aniridia but also from many other eye diseases. As age increased, visual acuity became worse, even blind. Most of the patients showed brain abnormalities to a greater or less degree. Callosal degeneration was mild in baby, while severe in grown-up. The patients, whose age were above 30, had glucose tolerance abnormality in different degrees and even diabetes mellitus. The members of family congenital aniridia suffered from nasal structure abnormalities and nasosinusitis, and the prevalence rate in family congenital aniridia was higher than that in normal controls. Conclusion Congenital aniridia caused by PAX6 mutation is not an independent eye disease but a syndrome which aniridia is its first symptom combined with many general diseases.