Graefes Arch Clin Exp Ophthalmol
February 2017
Graefes Arch Clin Exp Ophthalmol
January 2017
Background: Congenital cataract is a clinical and genetic heterogeneous group of eye disorders that causes visual impairment and childhood blindness. In this study, a Chinese family with congenital cataract is studied.
Methods: In order to identify the genetic defects which were associated with congenital cataract, a whole-exome sequencing approach is performed to screen for the potential mutation-causing disease.