Bilateral Ocular Hypertension with Rapidly Progressive Optic Neuropathy in a Teen

Abstract

Juvenile-onset Open Angle Glaucoma (JOAG) has been proposed to be a small subset of Primary Open Angle Glaucoma (POAG) and on a continual spectrum of Primary Open Angle Glaucoma. Because most patients with JOAG are asymptomatic, tonometry and optic nerve analysis are crucial in early detection and, thus, must be performed on all patients, young and old. JOAG has a variable onset, with rapidly progressive neuropathy that does not respond well to medical therapy alone, and surgical intervention is often the eventual treatment of choice. Mutations in the myocillin gene have been strongly linked to the disease. JOAG follows an autosomal dominant inheritance with relatively high penetrance. As such, close monitoring, genetics screening, and/or early medical management to prevent irreversible optic neuropathy and blindness should be considered as well for presymptomatic family members.