Ge Ling Ying, Tian Xin, Guo Han Mu, Yin Xue
Department of Ophthalmology, the First Affiliated Hospital of Soochow University, Suzhou, Jiangsu, China.
Front Oncol. 2024 Nov 28;14:1469969. doi: 10.3389/fonc.2024.1469969. eCollection 2024.
Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder that affects the skin, eyes and peripheral nervous system. It is rarely associated with glaucoma, especially in pediatric patients. We herein report an unusual case of corneal degeneration in a child with NF1, characterized by peripheral corneal leukoma and a membrane under Descemet's membrane. This finding offers new insights for the ophthalmic diagnosis of NF1.
1型神经纤维瘤病(NF1)是一种罕见的常染色体显性疾病,会影响皮肤、眼睛和周围神经系统。它很少与青光眼相关,尤其是在儿科患者中。我们在此报告一例患有NF1的儿童角膜变性的罕见病例,其特征为周边角膜白斑和后弹力层下膜。这一发现为NF1的眼科诊断提供了新的见解。