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Neurofibromatosis type 1 presenting as congenital glaucoma with associated plexiform neurofibroma.

Congenital glaucoma is an extremely rare primary manifestation of neurofibromatosis type 1 (NF1). A case is presented of a girl with congenital right-sided buphthalmos and glaucoma who was diagnosed with… Click to show full abstract

Congenital glaucoma is an extremely rare primary manifestation of neurofibromatosis type 1 (NF1). A case is presented of a girl with congenital right-sided buphthalmos and glaucoma who was diagnosed with NF1 in the neonatal period. A plexiform neurofibroma developed in the right periorbital area requiring multiple surgical debulking procedures and therapy with selumetinib.

Keywords: plexiform neurofibroma; neurofibromatosis type; congenital glaucoma; glaucoma

Journal Title: Clinical and experimental dermatology
Year Published: 2025

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