Mehta Neesurg S, Yannuzzi Nicolas A, Young Ryan, McClellan Andrew J, Read Sarah P, Berrocal Audina M
Ophthalmic Surg Lasers Imaging Retina. 2017 Jan 1;48(1):83-86. doi: 10.3928/23258160-20161219-13.
A 12-year-old boy presented with a total rhegmatogenous retinal detachment and a giant retinal tear in the right eye. Clinical examination, optical coherence tomography, and fundus images showed an optically empty vitreous, lattice degeneration, and retinoschisis of the macula. Genetic testing revealed mutations in the COL2A1 and RS1 genes, confirming a dual diagnosis of Stickler syndrome and X-linked retinoschisis, respectively. This represents the first published account of a patient with both Stickler syndrome and X-linked retinoschisis. [Ophthalmic Surg Lasers Imaging Retina. 2017;48:83-86.].
一名12岁男孩右眼出现完全性孔源性视网膜脱离和巨大视网膜裂孔。临床检查、光学相干断层扫描和眼底图像显示玻璃体光学空虚、格子样变性和黄斑视网膜劈裂。基因检测发现COL2A1和RS1基因发生突变，分别确诊为斯-韦综合征和X连锁视网膜劈裂症。这是首例同时患有斯-韦综合征和X连锁视网膜劈裂症患者的报道。[《眼科手术、激光与影像学杂志》。2017年；48:83 - 86。]
