Associated Retinal Consultants, Royal Oak, MI 48073, USA.
Ophthalmology. 2011 Oct;118(10):2070-5. doi: 10.1016/j.ophtha.2011.06.020. Epub 2011 Aug 25.
To describe the clinical characteristics, staging and presentation of patients with familial exudative vitreoretinopathy (FEVR) in our clinical practice over the last 25 years.
Case series, retrospective review.
We included 273 eyes of 145 patients.
Data collected from charts included gender, gestational age at birth, birthweight, age at presentation, referring diagnosis, family history, prior ocular surgery, and clinical presentation in each eye. Eyes with invasive posterior segment procedures before initial presentation were excluded.
Demographics on presentation and clinical staging.
Patients were slightly male predominant (57%) with a mean birthweight of 2.80 kg (range, 740 g-4.76 kg), mean gestational age of 37.8 weeks (range, 25-42), and mean age at presentation of almost 6 years (range, <1 month-49 years). A positive family history of FEVR was obtained in 18% of patients. A positive family history for ocular disease consistent with but not diagnosed as FEVR was obtained in an additional 19%. Stage 1 FEVR was identified in 45 eyes, stage 2 in 33 eyes, stage 3 in 42 eyes, stage 4 in 89 eyes, and stage 5 in 44 eyes. Radial retinal folds were seen in 77 eyes, 64 of which were temporal or inferotemporal in location.
The FEVR patient population is remarkable for the wide range of age at presentation, gestational age, and birthweight. Although a positive family history on presentation may support the diagnosis of FEVR, a negative family history is of little help. The majority of retinal folds extended radially in the temporal quadrants, but radial folds were seen in almost all quadrants. Fellow eyes demonstrated a wide variation in symmetry. The presentation of FEVR may mimic the presentation of other pediatric and adult vitreoretinal disorders, and careful examination is often crucial in making the diagnosis of FEVR.
FINANCIAL DISCLOSURE(S): The authors have no proprietary or commercial interest in any of the materials discussed in this article.
描述过去 25 年我们临床实践中家族性渗出性玻璃体视网膜病变（FEVR）患者的临床特征、分期和表现。
病例系列，回顾性研究。
我们纳入了 145 名患者的 273 只眼。
从病历中收集的数据包括性别、出生时的胎龄、出生体重、就诊年龄、就诊诊断、家族史、既往眼部手术以及每只眼的临床表现。排除了在初次就诊前进行过侵袭性后节手术的眼。
就诊时的人口统计学特征和临床分期。
患者略以男性为主（57%），平均出生体重为 2.80kg（范围，740g-4.76kg），平均胎龄为 37.8 周（范围，25-42 周），平均就诊年龄接近 6 岁（范围，<1 个月-49 岁）。18%的患者有 FEVR 阳性家族史。另外 19%的患者有阳性家族史，但眼部疾病与 FEVR 一致但未确诊为 FEVR。在 45 只眼中发现了 1 期 FEVR，33 只眼中发现了 2 期 FEVR，42 只眼中发现了 3 期 FEVR，89 只眼中发现了 4 期 FEVR，44 只眼中发现了 5 期 FEVR。77 只眼中出现了视网膜放射状皱褶，其中 64 只为颞侧或颞下侧。
FEVR 患者人群的就诊年龄、胎龄和出生体重范围很广。尽管就诊时的阳性家族史可能支持 FEVR 的诊断，但阴性家族史帮助不大。大多数视网膜皱褶呈放射状延伸到颞象限，但几乎所有象限都可见放射状皱褶。对侧眼的对称性差异很大。FEVR 的表现可能类似于其他小儿和成人玻璃体视网膜疾病的表现，仔细检查通常对 FEVR 的诊断至关重要。
作者没有与本文讨论的任何材料有关的专有或商业利益。
