Abstract:

Objective To summarize the characteristics of clinically missed or misdiagnosed patients with familial exudative vitreoretinopathy (FEVR). Design A retrospective case analysis. Participants 28 cases with FEVR (55 eyes) presented to Beijing Tongren Hospital from February 2017 to August 2018 who had been misdiagnosed previously and 25 families of these cases (50 persons including father and mother). Methods We summarized the symptoms, the ocular characteristics and the examination results of these patients. The causes of misdiagnosis were analyzed, and the characteristics of the family history of these cases were summarized. Main Outcome Measures Clinical symptoms, signs under slit-lamp microscope and funduscopy, fundus fluorescence angiography (FFA) and color Doppler ultrasound. The data of the parents' FFA and the family history. Results Of the 28 FEVR patients in this study, 1 patient was involved unilaterally and the others were involved bilaterally. 20 cases (71.43%) had bilateral asymmetric disease stage. 18 cases presented (64.29%) with strabismus. 35 eyes (63.64%) had leopard-like fundus, and 30 eyes (54.54%) had cataract. The fundus and FFA in FEVR are characteristic. Each stage of FEVR can be misdiagnosed and missed. Some common misdiagnosed diseases in early childhood were as following: congenital cataract (2 cases), persistent hyperplastic primary vitreous (14 cases), glaucoma(3 cases), strabismus(4 cases). The common missed diseases in teenagers included high myopia and amblyopia(4 cases) and rhegmatogenous retinal detachment（3 cases）. A total of 25 families were examined with FFA, in which father or mother were positive in 12 families, with a positive rate of 12/25 (48%). Conclusion FEVR with various forms of presentation can be easily misdiagnosed. The children and teenagers with cataract, anomalies of vitreous, glaucoma, strabismus should be considered the possibility of FEVR, even without a FEVR family history. (Ophthalmol CHN, 2019, 28: 354-358)

Key words: familial exudative vitreousretinopathy, misdiagnosis, missed diagnosis