PDF(Pubmed)
Abstract：
UNASSIGNED: To report a rare clinical finding of preretinal granules associated with atypical familial exudative vitreoretinopathy (FEVR) and perform a review of the literature.
UNASSIGNED: An asymptomatic 18-year-old male was referred for unilateral peripheral avascular retina evaluation in association with presumed FEVR. He was first noted to have white preretinal granules on fundus examination at five years of age. The lesions remained unchanged over the subsequent years. Genetic testing did not reveal a pathogenic or likely pathogenic variant in a known FEVR gene. A review of the literature revealed five other cases of FEVR with similar findings.
UNASSIGNED: Literature review suggests preretinal granules may present rarely in FEVR. Negative genetic screening of known FEVR genes in our patient with atypical FEVR suggests either a molecularly distinct etiology supporting the rarity of this association with FEVR or, alternatively, the presence of granules in developmental retinal vascular anomalies that are not specific to FEVR. Future study and genetic testing is necessary to better understand the cause of these preretinal granules and the clinical manifestations of FEVR.
UNASSIGNED: An asymptomatic 18-year-old male was referred for unilateral peripheral avascular retina evaluation in association with presumed FEVR. He was first noted to have white preretinal granules on fundus examination at five years of age. The lesions remained unchanged over the subsequent years. Genetic testing did not reveal a pathogenic or likely pathogenic variant in a known FEVR gene. A review of the literature revealed five other cases of FEVR with similar findings.
UNASSIGNED: Literature review suggests preretinal granules may present rarely in FEVR. Negative genetic screening of known FEVR genes in our patient with atypical FEVR suggests either a molecularly distinct etiology supporting the rarity of this association with FEVR or, alternatively, the presence of granules in developmental retinal vascular anomalies that are not specific to FEVR. Future study and genetic testing is necessary to better understand the cause of these preretinal granules and the clinical manifestations of FEVR.
摘要：
■报告与非典型家族性渗出性玻璃体视网膜病变（FEVR）相关的视网膜前颗粒的罕见临床发现，并进行文献综述。
■一名无症状的18岁男性被转诊为单侧外周无血管视网膜评估与推测的FEVR相关。他在5岁时的眼底检查中首次发现有白色的视网膜前颗粒。在随后的几年中，病变保持不变。基因检测未发现已知FEVR基因中的致病性或可能的致病性变异。对文献的回顾显示，其他5例FEVR也有类似的发现。
■文献综述表明，视网膜前颗粒可能很少出现在FEVR中。在我们患有非典型FEVR的患者中，对已知FEVR基因进行阴性遗传筛查表明，分子上不同的病因支持这种与FEVR相关的罕见性或，或者，在非FEVR特异性的发育性视网膜血管异常中存在颗粒。未来的研究和基因检测是必要的，以更好地了解这些视网膜前颗粒的原因和FEVR的临床表现。
■一名无症状的18岁男性被转诊为单侧外周无血管视网膜评估与推测的FEVR相关。他在5岁时的眼底检查中首次发现有白色的视网膜前颗粒。在随后的几年中，病变保持不变。基因检测未发现已知FEVR基因中的致病性或可能的致病性变异。对文献的回顾显示，其他5例FEVR也有类似的发现。
■文献综述表明，视网膜前颗粒可能很少出现在FEVR中。在我们患有非典型FEVR的患者中，对已知FEVR基因进行阴性遗传筛查表明，分子上不同的病因支持这种与FEVR相关的罕见性或，或者，在非FEVR特异性的发育性视网膜血管异常中存在颗粒。未来的研究和基因检测是必要的，以更好地了解这些视网膜前颗粒的原因和FEVR的临床表现。
