早产儿家族性渗出性玻璃体视网膜病变的临床特征

目的:探讨6例早产儿家族性渗出性玻璃体视网膜病变(FEVR)的临床特征.方法:收集2018-08/2019-01在上海交通大学附属新华医院眼科就诊的FEVR早产儿6例,均于全身麻醉下行荧光素眼底血管造影(FFA)检查确诊,回顾性分析患儿的病例资料及病情特点.结果:患儿6例均有明确的早产病史,初始诊断为早产儿视网膜病变(...

Clinical characteristic of familial exudative vitreous retinopathy occurring in premature infants

AIM: To describe the clinical characteristics of 6 premature infants diagnosed as familial exudative vitreoretinopathy(FEVR).

METHODS: From August 2018 to January 2019, the researchers collected six premature cases of FEVR from Xinhua Hospital Affiliated To Shanghai Jiao Tong University School of Medicine. All 6 infants born prematurely had examinations of fundus photography and fluorescein angiograms under anesthesia. Medical history and angiographic features were analyzed retrospectively.

RESULTS: Six infants born prematurely were initially misdiagnosed as retinopathy of prematurity ROP. All underwent injection anti-vascular endothelial growth factor(anti-VEGF)drug into vitreous body cavity subsequently, two of whom were treated with injection anti-VEGF drug into vitreous body cavity twice. Six infants born prematurely had follow-up examinations of fundus photography and fluorescein angiograms with the machine of Retcam digital imaging system under anesthesia, they were eventually diagnosed as FEVR. Then 2 cases were treated with laser photocoagulation, 1 case was treated with injection anti-VEGF drug into vitreous body cavity combined laser photocoagulation, 1 case was treated with injection anti-VEGF drug into vitreous body cavity, 2 cases maintain the follow-up visit.

CONCLUSION: Clinically, premature infants FEVR, tend to be misdiagnosed as ROP initially. If the demarcation line separating the avascular from the vascular retinal regions presents persistent or the condition turns to be worse, more examinations will be required to confirm the diagnosis such as fluorescein angiograms under anesthesia. FEVR is a lifelong disease, its symptoms, if present, typically take a progressive course during childhood and adolescence. Early diagnosis of FEVR is crucial due to its progressive nature and the genetic/familial underpinnings of the condition. The correct identification of those FEVR patients can help them receive timely treatment and genetic counseling for those of child-bearing age.