Association of Duplications With Juvenile Open-Angle Glaucoma

What is the phenotype and prevalence of duplications encompassing the gene in 2 large glaucoma registries?In this study, duplications were most commonly associated with referrals for juvenile open-angle glaucoma (JOAG), with a minority showing anterior segment dysgenesis, contrasting with deletions or single-nucleotide variants. duplications were among the most frequent monogenic variations associated with JOAG.Across 2 large registries, duplications were among the most frequent monogenic variations associated with highly penetrant but variably expressive JOAG, supporting routine duplication testing and highlighting the genetic heterogeneity of JOAG.

Corresponding Author: Giorgina E. Maxwell, MGC, Department of Ophthalmology, Flinders Health and Medical Research Institute, Flinders University, Sturt Road, Bedford Park, SA 5042, Australia (giorgina.maxwell@flinders.edu.au).

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