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Abstract #113048 Published in IGR 24-3

An Isolated Case of Unilateral Macro-Ophthalmia With Resultant Anisometropic Amblyopia in Neurofibromatosis 1

Mukit FA; Cape HT; Huq SS; Bohn S
Cureus 2023; 15: e44679


The most common causes of vision loss in neurofibromatosis 1 (NF1) patients are sequelae from tumors such as optic pathway glioma, plexiform neurofibroma, or secondary glaucoma. Here we report the case of a six-year-old female with anisometropic amblyopia resulting from an isolated unilateral macro-ophthalmia with a known history of NF1. Our patient progressed to light perception vision in the left eye due to a non-neoplastic cause associated with NF1 with at least two years of documented unilateral macro-ophthalmia without any ophthalmology referral or evaluation. This case aims to highlight the importance of early and deliberate ophthalmologic examination in all patients with neurofibromatosis 1 to assess for appropriate visual development and early intervention.

Department of Ophthalmology, Hamilton Eye Institute, The University of Tennessee Health Science Center, Memphis, USA.

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15 Miscellaneous



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