Paulus Yannis M, Alcorn Deborah M, Gaynon Michael, Moshfeghi Darius M
Ophthalmic Surg Lasers Imaging Retina. 2015 May;46(5):589-91. doi: 10.3928/23258160-20150521-14.
The authors present the first case of peripheral avascular retina in a term male neonate with pancreatic exocrine insufficiency, atypical microvillus inclusion disease, flat tympanograms, and recurrent urinary tract infections. Clinical examination showed avascular peripheral retina to posterior zone II temporally, with a flat stage 1-like demarcation line, and no plus disease. Genetic testing results were normal. The patient developed peripheral neovascularization and underwent panretinal photocoagulation. This case likely represents mild Norrie disease, familial exudative vitreoretinopathy, or incontinentia pigmenti due to a Wnt signaling abnormality. While these conditions are usually more severe, a variable spectrum of Wnt abnormalities exists throughout the body.
作者报告了首例足月男婴患有胰腺外分泌功能不全、非典型微绒毛包涵体病、鼓室图平坦及复发性尿路感染，同时伴有周边无血管视网膜的病例。临床检查显示颞侧周边视网膜至后二区无血管，有一条类似1期的平坦分界线，且无增值性病变。基因检测结果正常。该患者出现周边视网膜新生血管并接受了全视网膜光凝治疗。此病例可能代表因Wnt信号异常导致的轻度诺里病、家族性渗出性玻璃体视网膜病变或色素失禁症。虽然这些病症通常更为严重，但全身存在一系列不同程度的Wnt异常情况。
