Dotan Gad, Keren Shay, Stolovitch Chaim, Toledano-Alhadef Hagit, Kesler Anat
Department of Ophthalmology, Tel Aviv Sourasky Medical Center, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel Maccabi Healthcare Services, Ramat Hasharon, Israel
Department of Ophthalmology, Tel Aviv Sourasky Medical Center, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
J Child Neurol. 2015 Jan;30(1):113-6. doi: 10.1177/0883073813520504. Epub 2014 Mar 20.
Neurofibromatosis type 1 disease is an autosomal dominant disorder associated with numerous ophthalmic and systemic manifestations. Organic causes of visual loss include optic pathway gliomas, orbital plexiform neurofibroma, and glaucoma. In this study, the authors analyzed the prevalence of ametropia as a cause for visual loss in children with neurofibromatosis type 1 disease younger than age 12 years compared to matched controls. Only children with normal neuroimaging were evaluated. Myopia, hyperopia, astigmatism, and anisometropia were all more common in children with neurofibromatosis type 1 disease; however, statistically significant differences were observed in mild myopia and astigmatism alone. A higher need for optical correction was found in children with neurofibromatosis type 1 disease (33.3% vs 17.1% of controls, P = .049). In conclusion, children with neurofibromatosis type 1 disease have a higher prevalence of ametropia, especially mild myopia and astigmatism, often requiring optical correction. Routine refraction screening is recommended for limiting preventable visual loss.
1型神经纤维瘤病是一种常染色体显性疾病，与众多眼科及全身表现相关。视力丧失的器质性病因包括视路胶质瘤、眼眶丛状神经纤维瘤和青光眼。在本研究中，作者分析了12岁以下1型神经纤维瘤病患儿与匹配对照组相比，屈光不正作为视力丧失原因的患病率。仅对神经影像学正常的儿童进行评估。近视、远视、散光和屈光参差在1型神经纤维瘤病患儿中均更为常见；然而，仅在轻度近视和散光中观察到统计学上的显著差异。发现1型神经纤维瘤病患儿对视力矫正的需求更高（33.3%对比对照组的17.1%，P = 0.049）。总之，1型神经纤维瘤病患儿屈光不正的患病率更高，尤其是轻度近视和散光，常需要视力矫正。建议进行常规验光筛查以减少可预防的视力丧失。
