CAJ | 학술논문

目的观察家族性渗出性玻璃体视网膜病变(FEVR)的临床特征.方法临床检查确诊为FEVR的202例患者404只眼纳入研究.202例患者来自84个家庭,由同一位眼底病专家确诊.所有患者均采用裂隙灯显微镜检查眼前节;复方托吡卡胺滴眼液散瞳后,应用间接检眼镜检查眼底,并用儿童视网膜成像系统或海德堡HR2眼底血管造影设备拍摄眼底照片;采用荧光素眼底血管造影(FFA)检查明确眼底视网膜血管情况,年龄≤7岁者在全身麻醉下进行检查,年龄＞7岁者行常规检查.记录患者性别、年龄、家族史等一般情况.通过患眼眼底、FFA特征了解其分期情况.以单眼FEVR患者的对侧健康眼为0期;视网膜周边有无血管区,FFA无荧光渗漏为1期;视网膜周边有无血管区,FFA有荧光渗漏为2期;未累及黄斑区的视网膜脱离为3期;累及黄斑区的部分视网膜脱离为4期;视网膜全脱离为5期.结果 202例患者中,男性119例,女性83例.先证者平均确诊年龄16个月,平均出生孕周39周,平均出生体重3233 g.初诊时提供明确FEVR家族史4例,占1.98％;提供眼球震颤、白内障、小眼球、斜视等其他眼病家族史25例,占12.38％;初诊时不明确眼病家族史173例,占85.64％.最终所有患者均通过对其家属成员行眼底和FFA检查明确其FEVR家族史.404只眼中,0期9只眼,占2.23％;1期162只眼,占40.10％;2期97只眼,占24.01％;3期72只眼,占17.82％;4期20只眼,占4.95％;5期44只眼,占10.89％.202例患者中,双眼病情不对称,属于不同分期59例,占29.21％.404只眼中,视网膜皱襞74只眼,占18.32％.结论 FEVR常见于足月和(或)出生体重正常者.大多患者处于无临床特征的1期和2期.29.21％的患者双眼病变不对称.
목적 관찰가족성삼출성파리체시망막병변(FEVR)적림상특정.방법 림상검사학진위FEVR적202례환자404지안납입연구.202례환자래자84개가정,유동일위안저병전가학진.소유환자균채용렬극등현미경검사안전절;복방탁필잡알적안액산동후,응용간접검안경검사안저,병용인동시망막성상계통혹해덕보HR2안저혈관조영설비박섭안저조편;채용형광소안저혈관조영(FFA)검사명학안저시망막혈관정황,년령≤7세자재전신마취하진행검사,년령＞7세자행상규검사.기록환자성별、년령、가족사등일반정황.통과환안안저、FFA특정료해기분기정황.이단안FEVR환자적대측건강안위0기;시망막주변유무혈관구,FFA무형광삼루위1기;시망막주변유무혈관구,FFA유형광삼루위2기;미루급황반구적시망막탈리위3기;루급황반구적부분시망막탈리위4기;시망막전탈리위5기.결과 202례환자중,남성119례,녀성83례.선증자평균학진년령16개월,평균출생잉주39주,평균출생체중3233 g.초진시제공명학FEVR가족사4례,점1.98％;제공안구진전、백내장、소안구、사시등기타안병가족사25례,점12.38％;초진시불명학안병가족사173례,점85.64％.최종소유환자균통과대기가속성원행안저화FFA검사명학기FEVR가족사.404지안중,0기9지안,점2.23％;1기162지안,점40.10％;2기97지안,점24.01％;3기72지안,점17.82％;4기20지안,점4.95％;5기44지안,점10.89％.202례환자중,쌍안병정불대칭,속우불동분기59례,점29.21％.404지안중,시망막추벽74지안,점18.32％.결론 FEVR상견우족월화(혹)출생체중정상자.대다환자처우무림상특정적1기화2기.29.21％적환자쌍안병변불대칭.
Objective To observe the clinical features of familial exudative vitreoretinopathy (FEVR).Methods 202 FEVR patients (404 eyes) from 84 families were included in this retrospective study,all the clinical diagnosis was made by the same expert in our Department.All patients were examined with slit lamp microscope,indirect ophthalmoscopy,children's retinal imaging system or Heidelberg HR2 fundus cameras for fundus photographs.Fluorescein angiography (FFA) was also performed for all patients,for those ≤ 7 years old it was performed under general anesthesia.Data collected from charts included gender,age at presentation and family history.According to the fundus presentation and FFA results,FEVR was classified into 0-5 stages.Stage 0 (normal) is for the health fellow eye in unilateral FEVR; stage 1:retinal peripheral avascular zone with no fluorescence leakage in FFA; stage 2:retinal peripheral avascular zone,with fluorescence leakage in FFA; stage 3..partial retinal detachment not involving the macular; stage 4:partial retinal detachment involving the macular; stage 5..total retinal detachment.Results There were 119 male patients and 83 females.The average age of diagnosis was 16 months,the average gestational age was 39 weeks and the average birth weight was 3223 g in the proband.At the first clinical visit,there was clear family history of FEVR in 4 patients (1.98％); family history of other eye disease (nystagmus,cataract,small eyes,strabismus and others) in 25 patients (12.38％); not family history of eye disease in 173 patients (85.64％).FEVR family history was confirmed by fundus examination and FFA for the family members.In all 404 eyes,9 eyes (2.23％) was normal,162 eyes (40.10％) was stage 1,97 eyes (24.01％) was stage 2,72 eyes (17.82％) was stage 3,20 eyes (4.95％) was stage 4,and 44 eyes (10.89％) was stage 5.In 202 patients,59 cases (29.21％) was asymmetry bilateral disease with different stage for each eye.In 404 eyes,retinal fold was found in 74 eyes (18.32％).Conclusions FEVR was common in full-term and/or normal birth weight newborns.More than half of patients are in stage 1 and 2 without any clinical features.29.21％ eyes were asymmetry bilateral diseases.