家族性渗出性视网膜病变临床特征

Clinical presentation of familial exudative vitreoretinopathy

目的描述不同时期的家族性渗出性视网膜病变（familial exudativevitreoretinopathy，FE-VR）患者，特别是新生儿期患者眼底病变的临床特征。方法回顾性系列病例研究。对2009-2013年在广州市妇女儿童医疗中心及珠海市妇幼保健院，经RetCamII眼底检查确诊为FEVR患者的家族史及眼底病变特征进行分析，其中31例51只眼为新生儿患者，4例8只眼为其他年龄段患者。结果35例患者中，2例4只眼有家族遗传病史，所有病人均无吸氧病史，且所有患者均为顺产足月儿，包括了1～5期各期的眼底病变。出生后48h内进行眼底检查即可发现早期眼底病变，表现为出现分界线及不同范围的无血管灌注区，均未见渗出性病变。晚期病变则出现纤维条索视网膜脱离。其中1期27例44只眼，2期3例5只眼，3期3例6只眼，4期1例1只眼，5期1例3只眼（含4期1例另1只眼）。结论（1）按现行标准诊断的FEVR临床特征与早产儿视网膜病变十分类似，但很多FEVR视网膜病变发生在仍然处于视网膜发育阶段的母体内。在出生48h内婴儿中，发现的FEVR病例均为早期病变。（2）多数FEVR病人病变程度轻微，少部分FEVR患者病情可在短期内迅速发展至晚期。（3）FEVR早期病变通过早期激光治疗可以获得良好效果。

Objective To describe the clinical characteristics of FEVR patients with different stage, especially the clinical characteristics of newborn. Methods Case series, retrospective review. The family history and fundus pictures of 35 patients （59 eyes） who diagnosed as FEVR were reviewed and analyzed. These patients were made a definite diagnosis as FEVR by RetCam II in Guangzhou women and children medical center or the Zhuhai municipal maternal and children care from 2009 to 2013. Among these patients, 31 cases of patients were neonatal patients while the 4 cases of patients with other age groups. Results In 35 cases of patients, 4 eyes of 2 cases had familial heredity history and all the patients were without oxygen uptake. The fimdus lesions of these cases included 5 stages. Fundus lesions of FEVR could be found within 48 hours after the birth by fundus examination which showed the line of demarcation and different range avascular area and without exudative lesions. With the fiber cords strained the retina; it may appearance exudate and retinal detachment in the later period of FEVR. Stage 1 FEVR was identified in 44 eyes of 27 cases, stage 2 in 33 eyes of 5 cases, stage 3 in 6 eyes of 3 cases, stage 4 in 1 eye of 1 case, and stage 5 in 3 eyes of 1 case （including 1 case 1 eye of stage 4）. Conclusions According to the diagnostic criteria of FEVR at present, the presentation FEVR is similar to ROE The lesion occurs when the FEVR patients still in the womb with the retina still in the stage of development. The lesion of retina is in the early stage of newborn babies whose age is within 48 hours. The lesion degrees of most FEVR patients are slightly, but the lesion of a few FEVR patients can be rapid development to later stage at short notice. By treating with laser in the early time, the FEVR patients with early stage can obtain a good outcome.