Ophthalmic screening in phakomatoses

Phakomatoses are a heterogenous group of congenital neurocutaneous syndromes that are associated with a wide range of ocular and systemic presentations. The ocular conditions are important to consider as they may be asymptomatic early on, but progress to irreversible vision loss. Due to the variability of disease presentation, timely diagnosis is crucial to preserve visual outcomes. This article provides a comprehensive review of literature on nine major phakomatoses, including Neurofibromatosis type 1, Neurofibromatosis type 2, Tuberous Sclerosis complex, Sturge Weber syndrome, Von Hippel-Lindau, Ataxia Telangiectasia, Basal Cell Nevus Syndrome, Wyburn-Mason syndrome, and PHACE syndrome, which are commonly treated by ophthalmologists and other eye care professionals. Across these syndromes, some common vision threatening manifestation include glaucoma, optic pathway gliomas, and retinal hamartomas, with variability in the age of onset and disease progression. This article aims to provide syndrome specific screening guidelines to allow early detection of ocular pathology and promote multi-disciplinary care among ophthalmologists, pediatricians, and other providers to decrease visual morbidities and improve overall patient outcomes.