Longxiang Huang, Tingting Xu, Jiahe Gan, Yukai Mao, Lijun Zhao, Xiaodong Jiao, Mengjie Fan, Tingting Wang, Daren Zhang, Meng Xu, Yihua Zhu, J Fielding Hejtmancik, Xuyang Liu
PRCIS: We report three novel variants in FBN1 and LTBP2 in three families with isolated ectopia lentis (EL), which shed new lights on the diagnosis and genetic counseling of EL and secondary glaucoma in clinical settings. PURPOSE: To explore the genetic mechanism in three families with isolated ectopia lentis (EL) and secondary angle closure glaucoma. METHODS: Three Han Chinese families with EL and glaucoma were recruited. All of the participants underwent complete ocular and general physical examinations and DNA samples were extracted from peripheral venous blood and screened for disease-causing variants using whole exome and Sanger sequencing...
March 20, 2023: Journal of Glaucoma