Hua Hong-Uyen T, Tran Kimberly D, Medina Carlos A, Fallas Brenda, Negron Cathy, Berrocal Audina M
Ophthalmic Surg Lasers Imaging Retina. 2017 Mar 1;48(3):272-274. doi: 10.3928/23258160-20170301-14.
The authors present clinical and angiographic findings in a 12-year-old girl with achondroplasia who presented with bilateral retinal peripheral nonperfusion and unilateral rhegmatogenous retinal detachment, which has not been previously described in achondroplasia. This report contributes incremental knowledge regarding aberrant retinal vascular phenomena observed in pediatric disease states and implicates the possible role of mutations in the FGFR3 gene in peripheral vascular abnormalities. [Ophthalmic Surg Lasers Imaging Retina. 2017;48:272-274.].
作者报告了一名12岁软骨发育不全女孩的临床和血管造影结果，该女孩出现双侧视网膜周边无灌注和单侧孔源性视网膜脱离，这在软骨发育不全中此前未见报道。本报告增加了关于在儿科疾病状态下观察到的异常视网膜血管现象的知识，并暗示FGFR3基因突变在周边血管异常中的可能作用。[《眼科手术、激光与影像学：视网膜》。2017年；48:272 - 274。]
