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Whole-exome screening for primary congenital glaucoma in Lebanon.

Ophthalmic genetics - 1 Jun 2023

Makhoul Nadine J, Wehbi Zahi, El Hadi Dalia, Noureddine Baha, Boustany Rose-Mary, Al-Haddad Christiane

Abstract excerpt

PURPOSE: Mutations were previously identified in the CYP1B1 gene in six out of 18 Lebanese families (33%) with primary congenital glaucoma (PCG). The purpose of this study is to determine the frequency and type of pathogenic mutations in other genes and compare to other populations using whole-exome sequencing and perform genotype-phenotype correlations. METHODS: Twelve PCG patients previously negative for...

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PMID: 36995002
DOI: 10.1080/13816810.2023.2189949

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