Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu 41566, Republic of Korea; School of Life Sciences, BK21 Plus KNU Creative BioResearch Group, Kyungpook National University, Daegu 41566, Republic of Korea.
Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu 41566, Republic of Korea.
Gene. 2019 Jul 15;705:177-180. doi: 10.1016/j.gene.2019.04.035. Epub 2019 Apr 12.
Congenital nystagmus (CN) is a heterogeneous disease that shows variable clinical features. There are a few mutations that are known to cause CN. Among them, a PAX6 mutation is known to cause CN with an extremely high frequency of aniridia. Here, we report on a family with an autosomal dominant PAX6 mutation, c.214G > A (p.Gly72Ser.), who presented with CN in the absence of aniridia. This study describes detailed clinical findings, including videonystagmography and fundus photography findings and emphasizes the importance of screening for the PAX6 gene in patients who present with CN in the absence of aniridia, as this will further elucidate the known phenotypes of PAX6-related diseases.
先天性眼球震颤（CN）是一种表现出可变临床特征的异质性疾病。有一些已知的突变会导致 CN。其中，PAX6 突变已知会导致 CN，且虹膜缺失的发生率极高。在这里，我们报告了一个常染色体显性 PAX6 突变的家族，c.214G>A（p.Gly72Ser.），该家族的患者表现为 CN，但没有虹膜缺失。本研究描述了详细的临床发现，包括视频眼震图和眼底摄影结果，并强调了在没有虹膜缺失的 CN 患者中筛查 PAX6 基因的重要性，因为这将进一步阐明 PAX6 相关疾病的已知表型。
