Center for Rare Diseases, Department of Pediatrics and Adolescent Medicine, Aarhus University Hospital, Palle Juul-Jensens, Boulevard 99, 8200, Aarhus N, Denmark.
Department of Ophthalmology, Aarhus University Hospital, Palle Juul-Jensens Boulevard 167, 8200, Aarhus N, Denmark.
Orphanet J Rare Dis. 2021 Nov 22;16(1):489. doi: 10.1186/s13023-021-02121-8.
Low-grade optic pathway glioma (OPG) develops in 15-20% of children with neurofibromatosis type 1 (NF1). OPGs are symptomatic in 30-50% and one-third of these require treatment. A few studies have suggested female sex as a risk factor for visual impairment associated with NF1-OPG. This descriptive study investigated the correlation between NF1-OPG growth, sex and visual impairment.
We based our cross-sectional study on a systematic, retrospective data collection in a NF1 cohort of children and adolescents below 21 years of age followed at Center for Rare Diseases, Aarhus University Hospital, Denmark. For each patient with OPG a medical chart review was performed including demographics, ophthalmological examinations and magnetic resonance imaging (MRI) of OPG.
Of 176 patients with NF1 (85 females, 91 males), we identified 21 patients with OPG (11.9%) with a preponderance of females, p = 0.184. Eight females (62%) and one male (13%) had visual impairment at the last ophthalmological evaluation. Five out of 21 children with OPG (24%) underwent diagnostic MRI because of clinical findings at the ophthalmological screening. Nine children (43%) had symptoms suggestive of OPG and seven (33%) experienced no OPG-related symptoms before the diagnostic MRI. Of eight children diagnosed with OPG ≤ two years of age, one had visual impairment. Of 13 children diagnosed > two years of age, eight had visual impairment; in each group, four of the children were treated with chemotherapy. The study suggested no correlation between NF1-OPG growth and sex.
Our data suggest sex as a risk factor for visual impairment, while an OPG diagnose ≤ two years of age was a protective factor for visual impairment. Females with NF1-OPG had a higher prevalence of visual impairment outcome compared to males. Interestingly, our data also suggest a better response to treatment in children with OPG diagnosed ≤ two years of age compared to older children. The findings in our study suggest sex as a potential prognostic factor for visual impairment.
低级别视路胶质瘤（OPG）在 15-20%的神经纤维瘤病 1 型（NF1）患儿中发展。30-50%的 OPG 患儿有症状，其中三分之一需要治疗。一些研究表明，女性是与 NF1-OPG 相关的视力损害的危险因素。这项描述性研究调查了 NF1-OPG 生长、性别和视力损害之间的相关性。
我们的横断面研究基于对丹麦奥胡斯大学医院罕见疾病中心 NF1 队列中 21 岁以下儿童和青少年进行的系统、回顾性数据收集。对每例 OPG 患者进行病历回顾，包括人口统计学、眼科检查和 OPG 的磁共振成像（MRI）。
在 176 名 NF1 患者（85 名女性，91 名男性）中，我们发现 21 名患者患有 OPG（11.9%），女性居多，p=0.184。8 名女性（62%）和 1 名男性（13%）在最后一次眼科评估时存在视力障碍。5 名患有 OPG 的儿童中有 21 名（24%）因眼科筛查时的临床发现而进行了诊断性 MRI。9 名儿童（43%）有 OPG 症状，7 名儿童（33%）在诊断性 MRI 前无 OPG 相关症状。在 8 名诊断为 OPG 的儿童中，≤2 岁的有 1 名视力障碍，13 名诊断为>2 岁的儿童中，有 8 名视力障碍；在每组中，有 4 名儿童接受了化疗。研究表明 NF1-OPG 的生长与性别之间无相关性。
我们的数据表明，性别是视力损害的危险因素，而 OPG 在≤2 岁时诊断是视力损害的保护因素。NF1-OPG 的女性比男性更易出现视力损害的结果。有趣的是，我们的数据还表明，与年龄较大的儿童相比，≤2 岁时诊断出的 OPG 儿童对治疗的反应更好。我们的研究结果表明，性别可能是视力损害的一个潜在预后因素。
