Instituto de Genética Humana, Pontificia Universidad Javeriana, Bogotá D.C., Colombia.
Facultad de Ciencias de la Salud, Pontificia Universidad Javeriana, Cali, Colombia.
Biomedica. 2021 Sep 22;41(3):388-395. doi: 10.7705/biomedica.5604.
The malattia leventinese is an autosomal dominant inherited disease whose symptoms appear between the second and fourth decades of life. It is characterized by the appearance of drusen located between the retinal pigment epithelium and the Bruch membrane. It is usually associated with low vision and may progress to blindness. The pathogenic variant p.Arg345Trp in the EFEMP1 gene has been associated with this disease. We characterized clinically and molecularly a family with malattia leventinese using a comprehensive approach that involved ophthalmologists, pediatricians, and geneticists. This approach is of great importance since the phenotype of this disease is often confused with acular degeneration. All family members underwent ophthalmological evaluation and DNA extraction from a peripheral blood sample. All exons of the EFEMP1 gene were amplified and sequenced. The pathogenic variant p.Arg345Trp was identified in affected individuals in this family. This is the first report of malattia leventinese in a family with the p.Arg345Trp pathogenic variant in Colombia. The molecular diagnosis of retinal dystrophies is essential to differentiate this type of pathology.
莱文氏先天性黑蒙症是一种常染色体显性遗传性疾病，其症状出现在生命的第二和第四个十年之间。它的特征是视网膜色素上皮和布鲁赫膜之间出现沉积物。它通常与低视力有关，并可能发展为失明。EFEMP1 基因中的 p.Arg345Trp 致病变体与这种疾病有关。我们使用一种综合方法对一个莱文氏先天性黑蒙症家族进行了临床和分子特征分析，该方法涉及眼科医生、儿科医生和遗传学家。由于这种疾病的表型经常与黄斑变性混淆，因此这种方法非常重要。所有家族成员都接受了眼科评估，并从外周血样中提取了 DNA。EFEMP1 基因的所有外显子都被扩增和测序。在该家族的受影响个体中发现了致病变体 p.Arg345Trp。这是哥伦比亚首例报告携带 p.Arg345Trp 致病变体的莱文氏先天性黑蒙症家族。视网膜营养不良的分子诊断对于区分这种类型的病理至关重要。
