ABSTRACT

Background

Familial exudative vitreoretinopathy (FEVR) is a rare hereditary disorder characterized by abnormal or incomplete retinal angiogenesis commonly inherited in an autosomal dominant fashion. Up to 50% of FEVR cases are linked to known genetic mutations affecting retinal vasculature development.

Purpose

To report a case, a novel pathogenic variant of the ZNF408 gene associated with a case of FEVR in a premature male.

Materials and methods

Case report

Results

A 10-month-old male who was born prematurely at 34 weeks’ gestation in the Dominican Republic was referred for persistent avascular retina. The baby was treated with bilateral intravitreal ranibizumab injections for retinopathy of prematurity (ROP) with the presence of plus disease. Fundus examination several months after treatment revealed the absence of tortuosity of the vessels with avascular periphery; fluorescein angiography (FA) confirmed peripheral avascularity and demonstrated irregular sprouts of vascularization in the absence of neovascularization. We performed genetic testing under the suspicion of FEVR and results identified a heterozygous mutation in the ZNF408 gene on chromosome 11, c.1307 C > T.

Conclusion

FEVR is an important differential diagnosis in premature infants with retinopathy, as clinical presentation can overlap with common findings in ROP. Maintaining high suspicion for the disease is especially critical in cases with findings unusual for ROP. FEVR in the presence of prematurity has been well described, falling under the proposed term ROPER. Genetic testing is key to confirm diagnosis.

中文翻译：

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在 ZNF408 基因中具有新的致病性变异的儿童中无法识别的 ROPER

摘要

背景

家族性渗出性玻璃体视网膜病变 (FEVR) 是一种罕见的遗传性疾病，其特征是视网膜血管生成异常或不完全，通常以常染色体显性方式遗传。高达 50% 的 FEVR 病例与影响视网膜血管发育的已知基因突变有关。

目的

报告一例与一例早产男性 FEVR 相关的 ZNF408 基因的新型致病性变异。

材料和方法

案例报告

结果

在多米尼加共和国，一名 10 个月大的男性在妊娠 34 周时早产，因持续性视网膜缺损而被转诊。该婴儿接受双侧玻璃体内雷珠单抗注射治疗，治疗存在 plus 疾病的早产儿视网膜病变 (ROP)。治疗数月后眼底检查显示血管无迂曲，周围无血管；荧光素血管造影 (FA) 证实了外周无血管，并在没有新血管形成的情况下显示出不规则的血管形成芽。我们在怀疑 FEVR 的情况下进行了基因检测，结果发现 11 号染色体上的 ZNF408 基因存在杂合突变，c.1307 C > T。

结论

FEVR 是早产儿视网膜病变的重要鉴别诊断，因为临床表现可能与 ROP 的常见表现重叠。对于 ROP 异常发现的病例，保持对该疾病的高度怀疑尤为重要。早产时的 FEVR 已得到很好的描述，属于建议的术语 ROPER。基因检测是确诊的关键。