Mukit Fabliha A, Cape Hays T, Huq Suhaiba S, Bohn Shiva
Department of Ophthalmology, Hamilton Eye Institute, The University of Tennessee Health Science Center, Memphis, USA.
Ophthalmology, University of Florida, Gainesville, USA.
Cureus. 2023 Sep 4;15(9):e44679. doi: 10.7759/cureus.44679. eCollection 2023 Sep.
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.
神经纤维瘤病1型（NF1）患者视力丧失的最常见原因是肿瘤后遗症，如视路胶质瘤、丛状神经纤维瘤或继发性青光眼。在此，我们报告一例6岁女性患者，其患有屈光参差性弱视，病因是孤立性单侧巨眼症，且有NF1病史。由于与NF1相关的非肿瘤性原因，我们的患者左眼进展为光感视力，有至少两年记录在案的单侧巨眼症病史，且未接受任何眼科转诊或评估。本病例旨在强调对所有神经纤维瘤病1型患者进行早期和审慎眼科检查的重要性，以评估适当的视觉发育情况并进行早期干预。
