A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract

• Main Authors: Qi Fan (Author), Dan Li (Author), Lei Cai (Author), Xiaodi Qiu (Author), Zhennan Zhao (Author), Jihong Wu (Author), Jin Yang (Author), Yi Lu (Author)
• Format: Book
• Published: BMC, 2019-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Congenital cataract is the most common cause of blindness among children worldwide. The aim of this study was to identify causative mutations in a Chinese family with isolated autosomal dominant posterior subcapsular cataract. Methods The proband and her parents underwent full op...