Article
Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma.
Investigative ophthalmology & visual science - 1 Mar 2017
Zhou Tiger, Souzeau Emmanuelle, Siggs Owen M, Landers John, Mills Richard, Goldberg Ivan, Healey Paul R, Graham Stuart, Hewitt Alex W, Mackey David A, Galanopoulos Anna, Casson Robert J, Ruddle Jonathan B, Ellis Jonathan, Leo Paul, Brown Matthew A, MacGregor Stuart, Sharma Shiwani, Burdon Kathryn P, Craig Jamie E
Abstract excerpt
Purpose: Primary open-angle glaucoma (POAG) and primary congenital glaucoma (PCG) with Mendelian inheritance are caused by mutations in at least nine genes. Utilizing whole-exome sequencing, we examined the disease burden accounted for by these known Mendelian glaucoma genes in a cohort of individuals with advanced early-onset POAG. Methods: The cases exhibited advanced POAG with young age of diagnosis. Cases and...
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