Abstract

Phakomatoses is a group of multisystem syndromes that have characteristic ophthalmic manifestations. Ophthalmologists often encounter these complex multisystem disorders in their clinic. We aim to present a case series of phakomatoses with typical and atypical features. The study design is institutional based, observational & interventional case series. For this study, cases were seen in tertiary eye care centre of North east India for 1year. The cases underwent ophthalmic and systemic examination and constellation of signs were noted. Various specialties of medicine were consulted before the final diagnosis . A series of 9 cases comprised of Neurofibromatosis type 1 (n=2) and type 2 (n=1), Von Hippel-Lindau Syndrome (n=2), Sturge -Weber syndrome (n=2), Tuberous Sclerosis (n=1) and Wyburn Mason syndrome (n=1). Additional histopathological examination was used to confirm diagnosis of NF-1 and 2 . Optic nerve glioma was diagnosed histopathologically in one of the case of NF1.