Meyers S M, Gutman F A, Kaye L D, Rothner A D
Department of Ophthalmology, Cleveland Clinic Foundation, Cleveland, OH, USA.
Trans Am Ophthalmol Soc. 1995;93:245-52; discussion 252-7. doi: 10.1016/s0002-9394(14)70558-6.
Neurofibromatosis (NF) is now known to be more than one disease. NF2, formerly classified as central neurofibromatosis, is characterized by bilateral vestibular schwannomas, previously termed "acoustic neuromas", and is much less common than NF1. Lens opacities at an early age have been described in approximately 85% of NF2 patients.
To determine the frequency of retinal abnormalities in NF2 patients.
We prospectively examined 15 consecutive patients who met the diagnostic criteria of NF2.
We observed an epiretinal membrane in the macular or paramacular area in 12 of 15 patients, and a combined pigment epithelial and retinal hamartoma in the macula of one patient who also had an epiretinal membrane in the macula of the other eye. Additionally, 11 patients had central posterior cortical, subcapsular, or peripheral cortical lens opacities.
Children or young patients with epiretinal membranes, combined pigment epithelial retinal hamartoma, and lens opacities that are not the result of other ocular disorders should have a neurologic evaluation and a careful family history for NF2.
现在已知神经纤维瘤病（NF）不止一种疾病。NF2以前被归类为中枢神经纤维瘤病，其特征是双侧前庭神经鞘瘤，以前称为“听神经瘤”，比NF1少见得多。约85%的NF2患者在早年出现晶状体混浊。
确定NF2患者视网膜异常的发生率。
我们前瞻性地检查了15例符合NF2诊断标准的连续患者。
我们在15例患者中的12例观察到黄斑或黄斑旁区域有视网膜前膜，在1例患者的黄斑区观察到色素上皮和视网膜错构瘤合并存在，该患者的另一只眼黄斑区也有视网膜前膜。此外，11例患者有中央后皮质、囊下或周边皮质晶状体混浊。
患有视网膜前膜、色素上皮视网膜错构瘤合并存在以及晶状体混浊且不是其他眼部疾病所致的儿童或年轻患者，应进行神经学评估并仔细询问NF2家族史。
