Ocular abnormalities in neurofibromatosis 2.
Ocular abnormalities in neurofibromatosis 2.
复制标题
2.神经纤维瘤病的眼部异常。
DOI：
10.1097/00041327-199612000-00037
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发表时间：
1996
影响因子：
4.2
通讯作者：
Vincent M. Riccardi
中科院分区：
文献类型：
--
作者：
Nicola K. Ragge;M. Baser;Jan Klein;A. Nechiporuk;Jesús Sainz;Stefan M. Pulst;Vincent M. Riccardi
目的
探讨临床诊断为神经纤维瘤病2型和无症状基因携带者的眼部异常。
方法
先证者通过耳鼻喉科手术确认。在一项横断面研究中，我们检查了49例神经纤维瘤病2，30例患者的后代，并作为对照组，18例散发性神经纤维瘤病2的父母和兄弟姐妹。检查包括完整的神经眼科评估、体格检查，对于有风险的患者和一级亲属，如果以前没有进行过钆增强的头颅和脊柱磁共振成像。
结果
最常见的眼部异常是后囊下或囊，皮质，或混合透镜混浊的49例神经纤维瘤病2和视网膜错构瘤11例（22%）中的33（67%）。我们使用分离分析，以确定突变携带者的状态，在两个多代家庭的6个风险的后代谁是30岁或以下。三名无症状的突变携带者患有白内障，而那些被预测不会携带突变的人则没有白内障。无症状突变携带者可能在儿童或青少年时期可检测到眼睛的发育异常，这一发现可能有助于疾病的早期诊断。
结论
神经纤维瘤病2型存在多种眼部异常，包括白内障、视网膜错构瘤和眼部运动缺陷。其中许多是发展或获得的早期生活，并可能有助于症状前诊断。对于筛查神经纤维瘤病2型患者的高危亲属，最提示神经纤维瘤病2型的白内障类型是30岁以下发病的斑块样后囊下或囊状白内障和皮质性白内障。
PURPOSE
To evaluate the ocular abnormalities in patients with clinically diagnosed neurofibromatosis 2 and asymptomatic gene carriers.
METHODS
Probands were ascertained through a surgical otolaryngology practice. In a cross-sectional study, we examined 49 patients with neurofibromatosis 2, 30 offspring of patients, and, as a comparison group, 18 parents and siblings of patients with sporadic neurofibromatosis 2. The examination included a complete neuro-ophthalmic assessment, physical examination, and, for patients and first-degree relatives at risk, cranial and spinal magnetic resonance imaging with gadolinium enhancement, if not previously performed.
RESULTS
The most common ocular abnormalities were posterior subcapsular or capsular, cortical, or mixed lens opacities in 33 (67%) of 49 patients with neurofibromatosis 2 and retinal hamartomas in 11 (22%). We used segregation analysis to determine the mutation carrier status of six at-risk offspring who were 30 years old or younger in two multigeneration families. Three asymptomatic mutation carriers had cataracts, whereas those who were predicted not to carry the mutation did not have cataracts. Asymptomatic mutation carriers may have developmental abnormalities of the eye that are detectable in childhood or adolescence, a finding that may assist in early diagnosis of the disease.
CONCLUSIONS
A variety of ocular abnormalities are present in neurofibromatosis 2, including cataracts, retinal hamartomas, and ocular motor deficits. Many of these are developmental or acquired early in life and may assist in presymptomatic diagnosis. For screening at-risk relatives of patients with neurofibromatosis 2, the types of cataract that are most suggestive of neurofibromatosis 2 are plaque-like posterior subcapsular or capsular cataract and cortical cataract with onset under the age of 30 years.