Oxford Eye Hospital (SLP, ZS, JSE), John Radcliffe Hospital, Headley Way, Headington Oxford, United Kingdom; Department of Neurology (BE, AP), John Radcliffe Hospital; and Oxford Centre for Genomic Medicine (DH), Nuffield Orthopaedic Hospital, Oxford, United Kingdom.
J Neuroophthalmol. 2019 Mar;39(1):44-49. doi: 10.1097/WNO.0000000000000675.
Neurofibromatosis type 2 (NF2) is an uncommon but well-recognized disorder characterized by multiple schwannomas and meningiomas. Adults typically present with hearing loss and balance disturbance, and children with ocular, dermatological, and neurological signs. Clinical diagnosis is confirmed by neuroimaging and genetic testing. Although ophthalmic features are present in patients with NF2, there are no reports correlating genetic severity subtypes with ophthalmic involvement.
We retrospectively reviewed longitudinal ophthalmological data of 83 patients with NF2, with known genetic severity subtype, to determine visual function over time. We created a scoring system (Oxford NF2 Ophthalmic Score [ONOS]) to quantify visually debilitating pathology.
The prevalence of optic atrophy, combined hamartomas, cataract, and epiretinal membranes significantly increased with genetic severity. Median age of survival to visual acuity worse than 1.0 logarithm of minimum angle of resolution in one eye significantly decreased with genetic severity and was 38 years in the genetically severe group, 49 years in moderate classics, 64 years in mild classics, and 84 years in the tissue mosaics. In the genetically severe, the visually damaging pathologies were largely untreatable. The ONOS correlated with genetic severity longitudinally and cross-sectionally.
Mutations associated with severe systemic disease result in greater visual morbidity at an earlier age. Those with tissue mosaicism are unlikely to have visually debilitating pathology secondary to NF2. Potentially treatable sources of damage to vision, however, affect all groups and must be identified early and treated effectively to retain useful vision throughout life.
神经纤维瘤病 2 型（NF2）是一种不常见但特征明显的疾病，其特征为多发性神经鞘瘤和脑膜瘤。成人通常表现为听力损失和平衡障碍，儿童则表现为眼部、皮肤和神经症状。临床诊断通过神经影像学和基因检测来确认。尽管 NF2 患者存在眼部特征，但尚无将基因严重程度亚型与眼部受累相关联的报道。
我们回顾性地分析了 83 例已知基因严重程度亚型的 NF2 患者的纵向眼科数据，以确定随时间推移的视力变化。我们创建了一个评分系统（牛津 NF2 眼科评分 [ONOS]）来量化致盲性病变。
视神经萎缩、联合错构瘤、白内障和视网膜前膜的患病率随基因严重程度显著增加。一眼视力低于 1.0 对数最小角分辨率的中位生存年龄随基因严重程度显著降低，在基因严重组为 38 岁，中度经典型为 49 岁，轻度经典型为 64 岁，组织镶嵌型为 84 岁。在基因严重组中，大部分致盲性病变是无法治疗的。ONOS 与基因严重程度具有纵向和横向相关性。
与严重系统性疾病相关的突变导致更严重的视力丧失更早发生。那些存在组织镶嵌的患者不太可能因 NF2 而发生致盲性病变。然而，所有患者都存在潜在的可治疗性视力损害，必须早期识别并有效治疗，以在整个生命周期内保持有用的视力。
