Juvenile open-angle glaucoma: a clinicopathological update and review

This review aims to highlight the characteristic clinical features, pathophysiology, risk factors, genetics, diagnostic work-up, therapeutic management, and recent advances in the clinical setting and management of juvenile open-angle glaucoma (JOAG).

A retrospective literature review of PubMed and Google was judiciously done to provide this update [2000-2025]. A diagnosis of JOAG is established on the basis of history and clinical examination, tonometry, angle evaluation by gonioscopy, central corneal thickness (CCT) evaluation, and slit lamp biomicroscopy for evaluation of optic disc changes and retinal nerve fiber layer (RNFL) loss. Structural [optical coherence tomography (OCT) and OCT angiography] and functional assessment [automated perimetry] is important in diagnosis and monitoring it.

Juvenile open-angle glaucoma is a rare type of primary open-angle glaucoma affecting individuals between 3 and 40 years of age. Classically described as having an early age of onset, high intraocular pressures, normal-appearing angles on gonioscopy, optic disc cupping, and visual field loss; other forms like juvenile ocular hypertension and juvenile normal tension glaucoma are also observed. Trabeculodysgenesis is the primary pathology hindering the normal egress of aqueous humor from the trabeculum; it is currently classified into four clinical subtypes on the basis of gonioscopic angle appearance. Male gender and myopia are risk factors. The MYOC gene mutations are commonly implicated in its pathogenesis. Medical therapy is the first-line management, but selective laser trabeculoplasty also yields favourable outcomes. Surgical management consensus is based on surgeon expertise and preference and is indicated for inadequate intraocular pressure control with non-invasive procedures.

JOAG is a heterogeneous and challenging disease, and a multidisciplinary approach is required in its diagnosis and management. Screening of patients at risk or those with a family history or risk factors may allow for earlier diagnosis and prevent visual disability. Prognosis depends on the stage of diagnosis, patient compliance, and prompt appropriate management. Lifelong follow-up is necessary to prevent visual morbidity from this optic neurodegenerative disorder.