特纳综合征背景下的小儿玻璃体视网膜疾病。
Select pediatric vitreoretinal disease in the setting of Turner's syndrome.
作者信息
Laura Diana M, Yannuzzi Nicolas A, Prakhunhungsit Supalert, Berrocal Audina M
机构信息
Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami, 900 NW 17th Street, Miami, FL, 33136, USA.
Siriraj Hospital, Mahidol University, Department of Ophthalmology, 2 Wang Lang Road, Bangkoknoi, Bangkok, 10700, Thailand.
出版信息
Am J Ophthalmol Case Rep. 2020 Mar 13;18:100662. doi: 10.1016/j.ajoc.2020.100662. eCollection 2020 Jun.
PURPOSE
To report 2 cases of pediatric vitreoretinal disease in the setting of Turner's syndrome.
OBSERVATIONS
A 4-year-old girl with Turner's syndrome was referred for evaluation of a tractional retinal detachment in the right eye. Fundoscopic examination disclosed temporal dragging of the macula in the right eye, and vascular nonperfusion in the right and left eyes. Genetic testing revealed a novel frameshift mutation in the gene consistent with familial exudative vitreoretinopathy (FEVR). The patient was treated with laser. A 14-year-old girl with Turner's syndrome presented with nyctalopia. Dilated fundus exam disclosed peri-foveal pigmentary changes and peripheral bone spicules. Full-field electroretinography demonstrated decreased rod and cone responses, consistent with retinitis pigmentosa (RP).
CONCLUSIONS AND IMPORTANCE
Vitreoretinal disease, including RP and FEVR, is rarely observed in patients with Turner's syndrome.
目的
报告2例患有特纳综合征的小儿玻璃体视网膜疾病病例。
观察结果
一名患有特纳综合征的4岁女孩因右眼牵引性视网膜脱离前来评估。眼底检查发现右眼黄斑颞侧牵拉，双眼血管无灌注。基因检测显示该基因存在一种新的移码突变，与家族性渗出性玻璃体视网膜病变（FEVR）一致。该患者接受了激光治疗。一名患有特纳综合征的14岁女孩出现夜盲症。散瞳眼底检查发现黄斑周围色素改变和周边骨针样改变。全视野视网膜电图显示视杆和视锥反应降低，符合色素性视网膜炎（RP）。
结论与意义
包括RP和FEVR在内的玻璃体视网膜疾病在特纳综合征患者中很少见。
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