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Case Reports
. 2023 Sep 4;15(9):e44679.
doi: 10.7759/cureus.44679. eCollection 2023 Sep.

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

Fabliha A Mukit  1 , Hays T Cape  1 , Suhaiba S Huq  2 , Shiva Bohn  1
Affiliations
Case Reports

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

Fabliha A Mukit et al. Cureus. .

Abstract

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.

Keywords: amblyopia; anisometropic amblyopia; asymmetric macro-ophthalmia; neurofibroma; neurofibromatosis 1; optic pathway glioma; plexiform neurofibromas.

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Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. Baseline magnetic resonance imaging of the Brain T1 FLAIR from 2020 showing asymmetric axial elongation to 26 mm of the left eye, compared to 22 mm in the right eye.
Figure 2
Figure 2. Zeiss Clarus™ fundus photos of the patient with normal posterior pole and optic nerves of both eyes.
Figure 3
Figure 3. Magnetic resonance imaging of the Brain T1 FLAIR from 2023 showing asymmetric axial elongation to 27 mm of the left eye, compared to 22 mm in the right eye.
Figure 4
Figure 4. Optical coherence tomography of the retinal nerve fiber layer revealing normal global thickness.
See this image and copyright information in PMC

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