Department of Ophthalmology, Kathmandu University School of Medical Sciences, Dhulikhel Hospital, Dhulikhel, Kavre, Nepal.
Kathmandu University School of Medical Sciences, Dhulikhel Hospital, Dhulikhel, Kavre, Nepal.
JNMA J Nepal Med Assoc. 2022 Jun 1;60(250):555-558. doi: 10.31729/jnma.7392.
Neurofibromatosis type 1 is a genetic disorder that follows an autosomal dominant pattern of inheritance. Ocular involvement is not uncommon, but spontaneous dialysis of the retina in the absence of a history of trauma is a rare clinical entity. Rare cases of retinal involvement such as retinal detachment or dialysis of ora serrata could be linked with the abnormal cell-matrix formation in neurofibromatosis type 1. Here, we present a case of a 36-year-old man having Neurofibromatosis Type 1 with spontaneous dialysis of ora serrata without prior history of ocular trauma. A routine fundoscopic examination should be done in addition to the examination of the anterior chamber in patients with neurofibromatosis type 1 despite the absence of ocular complaints.
case reports; neurfibromatosis type 1; ora serrata; retinal; retinal detachment.
神经纤维瘤病 1 型是一种遗传疾病，遵循常染色体显性遗传模式。眼部受累并不罕见，但在没有创伤史的情况下，视网膜自发性裂孔是一种罕见的临床实体。视网膜脱离或锯齿缘裂孔等罕见的视网膜受累病例可能与神经纤维瘤病 1 型中异常的细胞-基质形成有关。在这里，我们介绍了一例 36 岁的男性患有神经纤维瘤病 1 型，其锯齿缘自发性裂孔，无眼部外伤史。尽管神经纤维瘤病 1 型患者没有眼部主诉，除了前房检查外，还应该进行常规眼底检查。
病例报告；神经纤维瘤病 1 型；锯齿缘；视网膜；视网膜脱离。
