Pediatric genetic diseases causing glaucoma

Abstract

Glaucomatous optic neuropathy may be considered as an endpoint of multiple systemic factors. Genetic conditions commonly causing glaucoma in children and adolescents include Axenfeld-Reiger syndrome, aniridia, Marfan syndrome, Weill-Marchessani syndrome, Sturge-Weber syndrome, Rubinstein-Taybi syndrome, nevus of Ota, congenital rubella and neurofibromatosis type 1. In the recent years, with the advancements in genetic research our understanding of the fundamental causes of glaucoma associated with inherited disorders has improved. In addition to intraocular pressure reduction, it is important for the clinician to be familiar with the multiple systemic associations with glaucoma, to re-evaluate treatment frequently, and to target the underlying disease process, if present.

Keywords

Axenfeld-Reiger syndrome - aniridia - childhood glaucoma - congenital rubella - Marfan syndrome - nevus of Ota - neurofibromatosis type 1 - Rubinstein-Taybi syndrome - Sturge-Weber syndrome