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Definición diagnóstica en una familia con malattia leventinese en Colombia

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...

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Autores principales: Gelvez, Nancy, Hurtado-Villa, Paula, Flórez, Silvia, Brieke, Anne Charlotte, Rodríguez, Francisco, Bertolotto, Ana María, Tamayo, Martha L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Instituto Nacional de Salud 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8519600/
https://www.ncbi.nlm.nih.gov/pubmed/34559486
http://dx.doi.org/10.7705/biomedica.5604
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author Gelvez, Nancy
Hurtado-Villa, Paula
Flórez, Silvia
Brieke, Anne Charlotte
Rodríguez, Francisco
Bertolotto, Ana María
Tamayo, Martha L.
author_facet Gelvez, Nancy
Hurtado-Villa, Paula
Flórez, Silvia
Brieke, Anne Charlotte
Rodríguez, Francisco
Bertolotto, Ana María
Tamayo, Martha L.
author_sort Gelvez, Nancy
collection PubMed
description 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 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.Arg345Trp pathogenic variant in Colombia. The molecular diagnosis of retinal dystrophies is essential to differentiate this type of pathology.
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spelling pubmed-85196002021-10-18 Definición diagnóstica en una familia con malattia leventinese en Colombia Gelvez, Nancy Hurtado-Villa, Paula Flórez, Silvia Brieke, Anne Charlotte Rodríguez, Francisco Bertolotto, Ana María Tamayo, Martha L. Biomedica Reporte De Caso 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 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.Arg345Trp pathogenic variant in Colombia. The molecular diagnosis of retinal dystrophies is essential to differentiate this type of pathology. Instituto Nacional de Salud 2021-09-22 /pmc/articles/PMC8519600/ /pubmed/34559486 http://dx.doi.org/10.7705/biomedica.5604 Text en https://creativecommons.org/licenses/by/4.0/Este es un artículo publicado en acceso abierto bajo una licencia Creative Commons
spellingShingle Reporte De Caso
Gelvez, Nancy
Hurtado-Villa, Paula
Flórez, Silvia
Brieke, Anne Charlotte
Rodríguez, Francisco
Bertolotto, Ana María
Tamayo, Martha L.
Definición diagnóstica en una familia con malattia leventinese en Colombia
title Definición diagnóstica en una familia con malattia leventinese en Colombia
title_full Definición diagnóstica en una familia con malattia leventinese en Colombia
title_fullStr Definición diagnóstica en una familia con malattia leventinese en Colombia
title_full_unstemmed Definición diagnóstica en una familia con malattia leventinese en Colombia
title_short Definición diagnóstica en una familia con malattia leventinese en Colombia
title_sort definición diagnóstica en una familia con malattia leventinese en colombia
topic Reporte De Caso
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8519600/
https://www.ncbi.nlm.nih.gov/pubmed/34559486
http://dx.doi.org/10.7705/biomedica.5604
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