神经纤维瘤病1(NF1)患者视力丧失的最常见原因是视路胶质瘤等肿瘤的后遗症,丛状神经纤维瘤,或继发性青光眼。在这里,我们报告了一名6岁女性屈光参差性弱视的病例,该病例是由具有NF1病史的孤立性单侧大眼炎引起的。由于与NF1相关的非肿瘤原因,我们的患者进展为左眼的光感知视力,至少有两年的单侧大眼炎记录,没有任何眼科转诊或评估。该病例旨在强调对所有神经纤维瘤病1患者进行早期和有意的眼科检查的重要性,以评估适当的视觉发育和早期干预。
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.