Abstract：
BACKGROUND: Adult-onset vitelliform macular dystrophy (AVMD) is an inherited maculopathy characterized by metamorphopsias and decrease in visual acuity occurring between the fourth and the sixth decade. It is characterized by an \'egg yolk\' macular lesion eventually evolving towards foveal atrophy and fibrosis. It is usually an autosomal dominant inherited disorder with variable penetrance, mainly related to variants in BEST1, PRPH2, IMPG1, and IMPG2 genes.
METHODS: A 47-year-old woman complaining of \"wavy\" vision was referred to our clinic. Her past medical history and reported family history did not reveal any ocular disease. Complete ophthalmological evaluation was performed. Funduscopic examination and multimodal imaging revealed a round vitelliform lesion in both eyes, leading to a diagnosis of AVMD. Genetic analysis revealed a novel, likely pathogenetic, heterozygous c.478G > T (p.Glu160Ter), (NM_016247) variant in the IMPG2 gene.
CONCLUSIONS: Our patient exhibits a novel pathogenetic variant in a gene associated with AVMD. Heterozygous variants in the IMPG2 gene have been reported in multiple individuals with vitelliform macular dystrophy, with an autosomal dominant mode of inheritance. Genetic screening is essential to characterize patients, to predict vision loss in patients with a positive family history and to characterize eligible patients for new potential emerging therapies. Genotype-phenotype correlation studies are needed to have a clearer picture of pathogenetic mechanisms. Our study characterizes the phenotype related to a novel IMPG2 pathogenic variant through multimodal imaging.
METHODS: A 47-year-old woman complaining of \"wavy\" vision was referred to our clinic. Her past medical history and reported family history did not reveal any ocular disease. Complete ophthalmological evaluation was performed. Funduscopic examination and multimodal imaging revealed a round vitelliform lesion in both eyes, leading to a diagnosis of AVMD. Genetic analysis revealed a novel, likely pathogenetic, heterozygous c.478G > T (p.Glu160Ter), (NM_016247) variant in the IMPG2 gene.
CONCLUSIONS: Our patient exhibits a novel pathogenetic variant in a gene associated with AVMD. Heterozygous variants in the IMPG2 gene have been reported in multiple individuals with vitelliform macular dystrophy, with an autosomal dominant mode of inheritance. Genetic screening is essential to characterize patients, to predict vision loss in patients with a positive family history and to characterize eligible patients for new potential emerging therapies. Genotype-phenotype correlation studies are needed to have a clearer picture of pathogenetic mechanisms. Our study characterizes the phenotype related to a novel IMPG2 pathogenic variant through multimodal imaging.
摘要：
背景：成年型卵黄样黄斑营养不良（AVMD）是一种遗传性黄斑病变，其特征是在第四和第六个十年之间发生的畸形和视力下降。其特征是卵黄黄斑病变最终向中央凹萎缩和纤维化发展。它通常是一种常染色体显性遗传性疾病，具有可变的外显率，主要与BEST1、PRPH2、IMPG1和IMPG2基因变异有关。
方法：一名47岁妇女抱怨“波浪形”视力被转诊到我们的诊所。她的既往病史和报告的家族史没有发现任何眼部疾病。进行完整的眼科评估。Funduscopic检查和多模态成像显示双眼均有圆形卵黄样病变，导致AVMD的诊断。基因分析揭示了一部小说，可能是致病的，杂合c.478G>T（p。Glu160Ter），IMPG2基因中的(NM_016247)变体。
结论：我们的患者在与AVMD相关的基因中表现出一种新的致病变异。据报道，在多个患有卵黄样黄斑营养不良的个体中，IMPG2基因的杂合变体。具有常染色体显性遗传方式。基因筛查对患者的特征至关重要，预测具有阳性家族史的患者的视力丧失，并为符合条件的患者确定新的潜在新兴疗法的特征。需要进行基因型-表型相关性研究，以更清晰地了解致病机制。我们的研究通过多模态成像表征了与新型IMPG2致病变体相关的表型。
方法：一名47岁妇女抱怨“波浪形”视力被转诊到我们的诊所。她的既往病史和报告的家族史没有发现任何眼部疾病。进行完整的眼科评估。Funduscopic检查和多模态成像显示双眼均有圆形卵黄样病变，导致AVMD的诊断。基因分析揭示了一部小说，可能是致病的，杂合c.478G>T（p。Glu160Ter），IMPG2基因中的(NM_016247)变体。
结论：我们的患者在与AVMD相关的基因中表现出一种新的致病变异。据报道，在多个患有卵黄样黄斑营养不良的个体中，IMPG2基因的杂合变体。具有常染色体显性遗传方式。基因筛查对患者的特征至关重要，预测具有阳性家族史的患者的视力丧失，并为符合条件的患者确定新的潜在新兴疗法的特征。需要进行基因型-表型相关性研究，以更清晰地了解致病机制。我们的研究通过多模态成像表征了与新型IMPG2致病变体相关的表型。
