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
