Article
FOXC1 variant in a family with anterior segment dysgenesis and normal-tension glaucoma.
Experimental eye research - 1 Nov 2020
Or Lior, Barkana Yaniv, Hecht Idan, Weiner Chen, Einan-Lifshitz Adi, Pras Eran
Abstract excerpt
Our study describes the glaucoma phenotype in a family with Axenfeld-Rieger syndrome (ARS) and a FOXC1 variant. Included were 20 subjects from a large three generation family of Jewish Indian ancestry. Subjects underwent a comprehensive ophthalmic examination including automated perimetry and optical coherence tomography. Eight subjects were available for molecular analysis which included whole genome sequencing...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.