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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Instituto Nacional de Salud
2021
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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. |
format | Online Article Text |
id | pubmed-8519600 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Instituto Nacional de Salud |
record_format | MEDLINE/PubMed |
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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