Associated Retinal Consultants, P.C., Royal Oak, Michigan; Department of Ophthalmology, William Beaumont Hospital, Royal Oak, Michigan.
Department of Ophthalmology, William Beaumont Hospital, Royal Oak, Michigan.
Ophthalmology. 2014 Jan;121(1):262-268. doi: 10.1016/j.ophtha.2013.08.010. Epub 2013 Sep 29.
To describe the prevalence and severity of familial exudative vitreoretinopathy (FEVR) in asymptomatic relatives of known symptomatic FEVR patients.
Uncontrolled and retrospective case series at a single tertiary referral vitreoretinal practice.
A total of 148 eyes of 74 subjects were studied.
A retrospective chart review was conducted of patients with a diagnosis of FEVR between January 2011 and January 2013 at a single tertiary care retina practice. Data were collected from patient charts, including sex, gestational age at birth, age at presentation, referring diagnosis, family history, prior ocular surgery, clinical presentation, and diagnostic imaging in each eye. Inclusion criteria included confirmed clinical diagnosis of FEVR in patients referred to our clinic for evaluation of decreased vision. Patients were excluded if a definitive diagnosis of FEVR could not be made.
Clinical and angiographic findings.
A total of 74 subjects from 17 separate families met the inclusion criteria for this study. There were an average of 4.4 subjects per family included in this study. The cohort was 55% male and included 17 patients and 57 family members who agreed to undergo genotyping, examination, and diagnostic imaging. Forty-three percent of FEVR patients had detectable mutations in FZD4, NDP, or TSPAN12. Only 8% of the cohort reported a positive family history of FEVR in a first-degree relative. Among the index patients, 76% had clinical stage 3, 4, or 5 FEVR and 24% had stage 1 or 2 FEVR. Among the asymptomatic family members screened, 58% demonstrated clinical or angiographic findings consistent with stage 1 or 2 FEVR and 21% demonstrated clinical or angiographic findings consistent with stage 3, 4, or 5 FEVR.
Asymptomatic family members of FEVR patients frequently have early manifestations of FEVR (stage 1 or 2). Early-stage FEVR may progress to more advanced stages, which can result in vision loss. These data support the use of angiographic screening and clinical examination in immediate relatives of patients with symptomatic FEVR.
描述无症状的家族渗出性玻璃体视网膜病变（FEVR）患者的已知症状亲属中 FEVR 的患病率和严重程度。
在一家三级转诊玻璃体视网膜实践中进行的未对照和回顾性病例系列研究。
共有 74 名受试者的 148 只眼进行了研究。
对 2011 年 1 月至 2013 年 1 月期间在一家三级护理视网膜诊所就诊的确诊为 FEVR 的患者进行回顾性图表审查。从患者图表中收集数据，包括性别、出生时的胎龄、就诊时的年龄、转诊诊断、家族史、既往眼部手术、临床表现以及每只眼的诊断影像学。纳入标准包括转诊至我们诊所以评估视力下降的患者中确诊的临床诊断为 FEVR。如果不能明确诊断 FEVR，则排除患者。
临床和血管造影发现。
共有 17 个不同家庭的 74 名患者符合本研究的纳入标准。平均每个家庭有 4.4 名患者纳入本研究。该队列中 55%为男性，包括 17 名患者和 57 名同意接受基因分型、检查和诊断影像学检查的家庭成员。43%的 FEVR 患者在 FZD4、NDP 或 TSPAN12 中检测到可检测的突变。仅 8%的患者在一级亲属中有阳性的 FEVR 家族史。在指数患者中，76%为 3、4 或 5 期 FEVR，24%为 1 期或 2 期 FEVR。在筛查的无症状家族成员中，58%表现出与 1 期或 2 期 FEVR 一致的临床或血管造影表现，21%表现出与 3、4 期或 5 期 FEVR 一致的临床或血管造影表现。
FEVR 患者的无症状家庭成员常出现 FEVR 的早期表现（1 期或 2 期）。早期 FEVR 可能进展为更严重的阶段，从而导致视力丧失。这些数据支持对有症状的 FEVR 患者的直系亲属进行血管造影筛查和临床检查。
