目的:本报告旨在描述在母亲和女儿中观察到的家族性渗出性玻璃体视网膜病变(FEVR)的不同表型,两者都具有新的LRP5致病变异。
方法:本研究涉及对伴随多模态成像的病历进行回顾性回顾。使用全外显子测序进行分子表征,随后通过Sanger测序证实了致病变异。
结果:一名被诊断患有屈光参差性弱视的6岁女孩的右眼表现为黄斑拖曳和周围无血管视网膜。全外显子测序鉴定出以前未报道的杂合错义LRP5致病变异,Glu528Lys.同时,她43岁的母亲也携带了同样的突变,表现为外周渗出,无血管区域,和多个微动脉瘤。值得注意的是,两例病例均表现出独特的FEVR表型.
结论:我们的发现强调了与FEVR相关的临床表现的多样性,强调遗传评估的关键作用。尽管同一患者的眼睛之间的严重程度不同,在看似正常的眼睛中,对潜在的病理状态保持警惕至关重要。此外,这项研究有助于扩大FEVR的遗传谱。
OBJECTIVE: This report aims to delineate distinct phenotypes of Familial Exudative Vitreoretinopathy (FEVR) observed in a mother and her daughter, both harboring a novel LRP5 pathogenic variation.
METHODS: The investigation involves a retrospective review of medical records accompanied by multimodal imaging. Molecular characterization was performed using whole exon sequencing, and the pathogenic variant was subsequently confirmed through Sanger sequencing.
RESULTS: A 6-year-old girl diagnosed with anisometropic amblyopia exhibited macular dragging and peripheral avascular retina in her right eye. Whole exon sequencing identified a previously unreported heterozygous missense LRP5 pathogenic variation, Glu528Lys. Simultaneously, her 43-year-old mother also carried the same mutation, manifesting peripheral exudations, avascular areas, and multiple microaneurysms. Notably, both cases presented distinctive phenotypes of FEVR.
CONCLUSIONS: Our findings underscore the diversity in clinical presentations associated with FEVR, emphasizing the pivotal role of genetic evaluation. Despite variations in severity between the eyes of the same patient, it is crucial to remain vigilant for potential progression to a pathological status in the seemingly normal eye. Additionally, this study contributes to expanding the genetic spectrum of FEVR.