Department of ophthalmology, the first hospital affiliated to Army Medical University (Southwest Hospital), Chongqing, 400038, China.
BMC Ophthalmol. 2020 Apr 28;20(1):168. doi: 10.1186/s12886-020-01438-5.
To report a case of a young patient with neurofibromatosis type 1 (NF1).
Here we review the treatment administered to a 7-year-old NF1 patient with neovascular glaucoma as the primary diagnosis.
A 7-year-old boy developed visual loss in the right eye associated with periocular pain and ipsilateral headache that had persisted for 1 week. The patient's condition did not improve after treatment with topical or systemic glaucoma medications. Fundus examination of the right eye showed superotemporal retinal vasoproliferative tumors (RVPT). Near-infrared reflectance scans of the left eye's fundus revealed bright patchy regions, scattered across the posterior pole; systemic examination showed café-au-lait spots all over the patient's body. The patient had a clear family history. Genetic testing confirmed NF1. The right eye was treated with intravitreal ranibizumab injection, retinal lesion cryotherapy, and transscleral ciliary body photocoagulation. After treatment, RVPT scarring was observed. The patient's intraocular pressure remained within normal limits.
We report a rare case of neurofibromatosis in a pediatric patient with neovascular glaucoma accompanied by RVPT. We suggest that evaluations of young patients with neovascular glaucoma should include careful attention to the overall condition of the patient and his/her parents, as well as family history. If necessary, NF1 molecular testing should be performed to avoid a missed diagnosis or misdiagnosis.
报告 1 例神经纤维瘤病 1 型（NF1）的年轻患者病例。
我们回顾了对以新生血管性青光眼为主要诊断的 7 岁 NF1 患者进行的治疗。
1 名 7 岁男孩右眼视力丧失，伴有眶周疼痛和同侧头痛，持续 1 周。患者经局部和全身降眼压药物治疗后病情未见改善。右眼眼底检查发现上方视网膜血管性增殖瘤（RVPT）。左眼眼底近红外反射扫描显示后极部有明亮的斑片状区域；全身检查显示患者全身有咖啡牛奶斑。患者有明确的家族史。基因检测证实 NF1。右眼接受玻璃体腔内雷珠单抗注射、视网膜病变冷冻治疗和经巩膜睫状体光凝治疗。治疗后观察到 RVPT 瘢痕。患者的眼内压仍在正常范围内。
我们报告了 1 例儿童伴 RVPT 的新生血管性青光眼伴 NF1 的罕见病例。我们建议，对伴有 RVPT 的新生血管性青光眼的年轻患者进行评估时，应仔细注意患者及其父母的整体情况和家族史。如有必要，应进行 NF1 分子检测，以避免漏诊或误诊。
