Definición diagnóstica en una familia con malattia leventinese en Colombia

Malattia leventinese (ML) is an autosomal dominant inherited disease which initiates symptoms between the second and fourth decade of life. It is characterized by the appearance of drusen located between the retinal pigment epithelium (RPE) 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. In this study, a family with Malattia Leventinese (ML) was characterized clinically and molecularly, using a comprehensive approach that involved ophthalmologists, pediatricians and geneticists. This approach is of great importance since the phenotype of this disease is of ten confused with macular 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.Arg345Trppathogenic variant in Colombia. The molecular diagnosis of retinal dystrophies is essential to differentiate this type of pathology. In this particular families, there is an important ethical dilemma that treating physicians must evaluate or consider.