Novel clinical presentation and PAX6 mutation in families with congenital aniridia
PurposeTo explore the clinical phenotype and genetic defects of families with congenital aniridia.MethodsFour Chinese families with aniridia were enrolled in mini candy lipstick this study.The detailed ocular presentations of the patients were recorded.Whole exome sequencing (BGI MGIEasy V4 chip) was used to detect the gene mutation.Sanger sequenci