Seth Anisha, Ghosh Basudeb, Gupta Anika, Goel Neha
Guru Nanak Eye Centre, New Delhi, India.
Saudi J Ophthalmol. 2016 Jan-Mar;30(1):60-3. doi: 10.1016/j.sjopt.2015.08.005. Epub 2015 Sep 5.
Neurofibromatosis type 1 (NF-1) is an autosomal dominantly inherited disease characterized by café-au-lait spots, neurofibromas, axillary freckling, Lisch nodules of iris, gliomas and various systemic vascular ischemic manifestations mainly in the aorta, brain and kidney. Retinal vascular manifestations in patients with NF-1 are usually representative of retinal capillary hemangiomatosis. Few cases of NF-1 with retinal vascular occlusive disease have been described. We describe a young Indian woman with NF-1 with unilateral peripheral retinal ischemia but no vascular abnormality at the posterior pole.
1型神经纤维瘤病（NF-1）是一种常染色体显性遗传病，其特征为咖啡斑、神经纤维瘤、腋窝雀斑、虹膜Lisch结节、胶质瘤以及主要累及主动脉、脑和肾的各种全身血管缺血表现。NF-1患者的视网膜血管表现通常代表视网膜毛细血管瘤病。仅有少数NF-1合并视网膜血管闭塞性疾病的病例被描述过。我们报告了一名患有NF-1的年轻印度女性，其单侧周边视网膜缺血，但后极部无血管异常。
