Han Kyoung Hee, Lee Hye Jin, Ha Il-Soo, Kang Hee Gyung, Cheong Hae Il
Department of Pediatrics, Jeju National University School of Medicine, Jeju, Korea.
Department of Ophthalmology, Jeju National University School of Medicine, Jeju, Korea.
Korean J Pediatr. 2016 Nov;59(Suppl 1):S1-S4. doi: 10.3345/kjp.2016.59.11.S1. Epub 2016 Nov 30.
Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (), which is an essential gene in eye development. Herein, we report a familial case of autosomal dominant congenital aniridia with four affected members in 3 consecutive generations and describe the detailed ophthalmologic findings for one of these members. As expected, mutational analysis revealed a nonsense mutation (p.Ser122) in the gene. Thus, our findings reiterate the importance of mutations in congenital aniridia.
先天性无虹膜是一种罕见的眼部畸形，表现为虹膜严重发育不全及各种眼部表现。已知大多数先天性无虹膜病例与配对盒基因6（PAX6）的突变有关，PAX6是眼睛发育中的一个关键基因。在此，我们报告了一个常染色体显性遗传性先天性无虹膜的家族病例，连续三代中有四名患病成员，并描述了其中一名成员的详细眼科检查结果。正如预期的那样，突变分析在PAX6基因中发现了一个无义突变（p.Ser122）。因此，我们的研究结果再次强调了PAX6突变在先天性无虹膜中的重要性。
