家族性渗出性玻璃体视网膜病变合并孔源性视网膜脱离1例

A case report:familial exudative vitreoretinopathy with rhegmatogenous retinal detachment

家族性渗出性玻璃体视网膜病变(Familial Exudative Vitreoretinopathy,FEVR)是一种罕见的遗传性玻璃体视网膜疾病。该疾病早期体征不明显,晚期临床表现为多种并发症,在诊断时常以其临床表现为主症,从而忽视FEVR才是此类疾病的根源,导致误诊漏诊。该文章将报道1例由FEVR引起的孔源性视网膜脱离的诊疗经过,以期为眼科医师诊断该疾病提供临床参考。

Familial Exudative Vitreoretinopathy(FEVR)is a rare inherited vitreoretinopathy.The signs of the disease are not obvious at early stage,it often diagnosed by its multiple complications at late stage,and the clinical signs often leads to misdiagnosis.This article reports the diagnosis and treatment of a case of rhegmatogenous retinal detachment caused by FEVR,in order to provide clinical reference for ophthalmologists to diagnose the disease.