J Pediatr Ophthalmol Strabismus. 2022 Jul-Aug;59(4):e39-e41. doi: 10.3928/01913913-20220511-01. Epub 2022 Jul 1.
A 13-year-old boy with fragile X syndrome presented with painless, decreased vision in his right eye. Funduscopy revealed fibrotic tissue and an epiretinal membrane. This patient with fragile X syndrome was diagnosed as having combined hamartoma of the retina and retinal pigment epithelium and treated with vitrectomy and epiretinal membrane peeling. .
一名 13 岁的脆性 X 综合征男孩出现右眼无痛性视力下降。眼底检查显示纤维组织和视网膜内膜。这名脆性 X 综合征患者被诊断为患有视网膜和视网膜色素上皮联合错构瘤,并接受了玻璃体切除术和视网膜内膜剥除术治疗。