先天性无虹膜家系中发现 PAX6基因新的致病突变
, 李家璋A novel PAX6 mutation in a Chinese family with congenital aniridia
XING Yiqiao1 , LI Yin1 , LI Tuo1 , LI Jiazhang2 , YANG Lin1
, LI Jiazhang
先天性无虹膜家系中发现 PAX6基因新的致病突变 |
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邢怡桥, 李家璋 |
A novel PAX6 mutation in a Chinese family with congenital aniridia |
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XING Yiqiao
, LI Jiazhang |
| 先天性无虹膜患者Ⅲ-3的右眼UBM、眼底照相及黄斑OCT检查。A：UBM见少许虹膜根部残留;B：眼底照相示晶状体混浊,眼底像模糊;C：黄斑OCT示中心凹平坦,提示黄斑发育不良 |
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