Eye Institute of Shandong First Medical University, Qingdao Eye Hospital of Shandong First Medical University; State Key Laboratory Cultivation Base, Shandong Provincial Key Laboratory of Ophthalmology; School of Ophthalmology, Shandong First Medical University.
J Int Med Res. 2023 May;51(5):3000605231173828. doi: 10.1177/03000605231173828.
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disease that causes multi-system damage. It is rarely associated with angle-closure glaucoma, especially in pediatric patients. We herein report a case of unilateral chronic angle-closure glaucoma in a patient with NF1. A 5-year-old girl with a large subcutaneous soft mass and multiple scattered coffee-milk spots presented with low vision, increased intraocular pressure, and angle closure in her right eye. Lisch nodules were seen in both eyes. In her right eye, ectropion uveae was observed at the top and bottom margins of the pupil. Magnetic resonance imaging of the skull and orbit revealed no abnormalities. Finally, trabeculectomy was performed on the right eye, after which the right eye showed a stable intraocular pressure. NF1 combined with angle-closure glaucoma is rare and easily missed in the clinical setting. Early diagnosis and treatment may achieve good results.
神经纤维瘤病 1 型（NF1）是一种常染色体显性遗传疾病，可导致多系统损伤。它很少与闭角型青光眼相关，尤其是在儿科患者中。本文报告了 1 例 NF1 患者单侧慢性闭角型青光眼。1 例 5 岁女孩，患有大的皮下软组织肿块和多发性散在咖啡牛奶斑，表现为视力下降、眼压升高和右眼房角关闭。双眼可见 Lisch 结节。右眼瞳孔上下缘可见葡萄膜外翻。头颅和眼眶磁共振成像未见异常。最终对右眼行小梁切除术，术后右眼眼压稳定。NF1 合并闭角型青光眼在临床上较为罕见，容易漏诊。早期诊断和治疗可能会取得良好的效果。
