Palejwala Neal V, Stempel Andrew J, Stout J Timothy
*Casey Eye Institute, Oregon Health and Science University, Portland, Oregon; and †Alkek Eye Center, Jamail Specialty Care Center, Houston, Texas.
Retin Cases Brief Rep. 2015 Summer;9(3):245-7. doi: 10.1097/ICB.0000000000000150.
To describe a case of retinal detachment in a patient with Stuve-Wiedemann syndrome.
This report is a retrospective observational case report. The patient's demographics include age, gender, and race, as well as visual acuity, ophthalmic examination, and surgical intervention were extracted from the medical record. For immunohistochemistry studies, a sample of normal human retina from an enucleated specimen was obtained from the Pathology laboratory. A leukemia inhibitory factor receptor/CD118 antibody was obtained from Santa Cruz Biotechnology.
A 13-year-old Hispanic boy with known history of Stuve-Wiedemann syndrome (confirmed by genetic testing) presented with bilateral rhegmatogenous retinal detachments secondary to bilateral giant retinal tears. He underwent multiple surgical repairs in both eyes, resulting in successful reattachment in the right eye and an intractable closed funnel detachment in the left eye.
This is the first case of vitreoretinal pathology reported in Stuve-Wiedemann syndrome. Using immunohistochemistry staining, the authors found ubiquitous expression of leukemia inhibitory factor receptor protein in the normal human retina. They hypothesize that leukemia inhibitory factor receptor mutation may cause intrinsic weakness of the neurosensory retina predisposing it to injury.
描述1例患有施图韦-维德曼综合征患者的视网膜脱离情况。
本报告为回顾性观察病例报告。从病历中提取患者的人口统计学信息，包括年龄、性别和种族，以及视力、眼科检查和手术干预情况。对于免疫组织化学研究，从病理实验室获取了1例摘除眼球标本中的正常人视网膜样本。从圣克鲁斯生物技术公司获得白血病抑制因子受体/CD118抗体。
一名13岁有施图韦-维德曼综合征病史（经基因检测确诊）的西班牙裔男孩，因双侧巨大视网膜裂孔继发双侧孔源性视网膜脱离。他双眼接受了多次手术修复，右眼成功复位，左眼出现难治性闭合漏斗状脱离。
这是施图韦-维德曼综合征中报道的首例玻璃体视网膜病变病例。通过免疫组织化学染色，作者发现白血病抑制因子受体蛋白在正常人视网膜中普遍表达。他们推测白血病抑制因子受体突变可能导致神经感觉视网膜内在脆弱，使其易受损伤。
