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.