First unilateral glaucoma in an Omani boy with neurofibromatosis type 1 initially presented as proptosis with ectropion uvea

Abstract

A 4½-year-old boy presented to the ophthalmology clinic with intermittent left eye (LE) redness, protrusion, and reduced LE vision. He was noticed to have multiple skin hyperpigmented lesions increasing in size and number since birth. Clinically diagnosed as neurofibromatosis (NF)-type I associated with LE glaucoma, axial myopia, and amblyopia. He was started on topical timolol eye drops, then switched his timolol to latanoprost due to parasomnia (sleep disturbances and sleepwalking), and his symptoms improved significantly within 6 weeks with controlled intraocular pressure. NF-1 is a congenital multisystemic disease which needs special attention and continuous monitoring. Unilateral glaucoma is not a common association but can be the presenting ophthalmic manifestation. Multidisciplinary management is crucial for these patients.

Keywords

• ectropion uvea
• glaucoma
• neurofibromatosis-i
• proptosis