Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico
Abstract Background Inherited retinal dystrophies are hereditary diseases which have in common the progressive degeneration of photoreceptors. They are a group of diseases with clinical, genetic, and allelic heterogeneity. There is limited information regarding the genetic landscape of inherited ret...
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| Format: | Article |
| Language: | English |
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BMC
2024-02-01
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| Series: | BMC Ophthalmology |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12886-023-03276-7 |
| _version_ | 1797275444988346368 |
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| author | Rocio A. Villafuerte-de la Cruz Lucas A. Garza-Garza Manuel Garza-Leon Cesar Rodriguez-De la Torre Cinthya Parra-Bernal Ilse Vazquez-Camas David Ramos-Gonzalez Andrea Rangel-Padilla Angelina Espino Barros-Palau Jose Nava-García Javier Castillo-Velazquez Erick Castillo-De Leon Agustin Del Valle-Penella Jorge E. Valdez-Garcia Augusto Rojas-Martinez |
| author_facet | Rocio A. Villafuerte-de la Cruz Lucas A. Garza-Garza Manuel Garza-Leon Cesar Rodriguez-De la Torre Cinthya Parra-Bernal Ilse Vazquez-Camas David Ramos-Gonzalez Andrea Rangel-Padilla Angelina Espino Barros-Palau Jose Nava-García Javier Castillo-Velazquez Erick Castillo-De Leon Agustin Del Valle-Penella Jorge E. Valdez-Garcia Augusto Rojas-Martinez |
| author_sort | Rocio A. Villafuerte-de la Cruz |
| collection | DOAJ |
| description | Abstract Background Inherited retinal dystrophies are hereditary diseases which have in common the progressive degeneration of photoreceptors. They are a group of diseases with clinical, genetic, and allelic heterogeneity. There is limited information regarding the genetic landscape of inherited retinal diseases in Mexico, therefore, the present study was conducted in the northeast region of the country. Methods Patients with inherited retinal dystrophies were included. A complete history, full ophthalmological and medical genetics evaluations, and genetic analysis through a targeted NGS panel for inherited retinal dystrophies comprising at least 293 genes were undertaken. Results A total of 126 patients were included. Cases were solved in 74.6% of the study’s population. Retinitis pigmentosa accounted for the most found inherited retinal disease. Ninety-nine causal variants were found, being USH2A and ABCA4 the most affected genes (26 and 15 cases, respectively). Conclusions The present study documents the most prevalent causative genes in IRDs, as USH2A, in northeastern Mexico. This contrasts with previous reports of IRDs in other zones of the country. Further studies, targeting previously unstudied populations in Mexico are important to document the genetic background of inherited retinal dystrophies in the country. |
| first_indexed | 2024-03-07T15:14:28Z |
| format | Article |
| id | doaj.art-d3ae9d5725004a4e9a176fb46e2c6fca |
| institution | Directory Open Access Journal |
| issn | 1471-2415 |
| language | English |
| last_indexed | 2024-03-07T15:14:28Z |
| publishDate | 2024-02-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Ophthalmology |
| spelling | doaj.art-d3ae9d5725004a4e9a176fb46e2c6fca2024-03-05T18:02:22ZengBMCBMC Ophthalmology1471-24152024-02-0124111410.1186/s12886-023-03276-7Spectrum of variants associated with inherited retinal dystrophies in Northeast MexicoRocio A. Villafuerte-de la Cruz0Lucas A. Garza-Garza1Manuel Garza-Leon2Cesar Rodriguez-De la Torre3Cinthya Parra-Bernal4Ilse Vazquez-Camas5David Ramos-Gonzalez6Andrea Rangel-Padilla7Angelina Espino Barros-Palau8Jose Nava-García9Javier Castillo-Velazquez10Erick Castillo-De Leon11Agustin Del Valle-Penella12Jorge E. Valdez-Garcia13Augusto Rojas-Martinez14Tecnologico de Monterrey, Escuela de Medicina y Ciencias de La SaludDestellos de LuzDestellos de LuzTecnologico de Monterrey, Escuela de Medicina y Ciencias de La SaludTecnologico de Monterrey, Escuela de Medicina y Ciencias de La SaludTecnologico de Monterrey, The Institute for Obesity ResearchTecnologico de Monterrey, Escuela de Medicina y Ciencias de La SaludTecnologico de Monterrey, Escuela de Medicina y Ciencias de La SaludTecnologico de Monterrey, Escuela de Medicina y Ciencias de La SaludTecnologico de Monterrey, Escuela de Medicina y Ciencias de La SaludInstituto de La Visión, Hospital La CarlotaInstituto de La Visión, Hospital La CarlotaOftalmolaserTecnologico de Monterrey, Escuela de Medicina y Ciencias de La SaludTecnologico de Monterrey, Escuela de Medicina y Ciencias de La SaludAbstract Background Inherited retinal dystrophies are hereditary diseases which have in common the progressive degeneration of photoreceptors. They are a group of diseases with clinical, genetic, and allelic heterogeneity. There is limited information regarding the genetic landscape of inherited retinal diseases in Mexico, therefore, the present study was conducted in the northeast region of the country. Methods Patients with inherited retinal dystrophies were included. A complete history, full ophthalmological and medical genetics evaluations, and genetic analysis through a targeted NGS panel for inherited retinal dystrophies comprising at least 293 genes were undertaken. Results A total of 126 patients were included. Cases were solved in 74.6% of the study’s population. Retinitis pigmentosa accounted for the most found inherited retinal disease. Ninety-nine causal variants were found, being USH2A and ABCA4 the most affected genes (26 and 15 cases, respectively). Conclusions The present study documents the most prevalent causative genes in IRDs, as USH2A, in northeastern Mexico. This contrasts with previous reports of IRDs in other zones of the country. Further studies, targeting previously unstudied populations in Mexico are important to document the genetic background of inherited retinal dystrophies in the country.https://doi.org/10.1186/s12886-023-03276-7Retinal dystrophiesInherited retinopathyPathogenic variantMexico |
| spellingShingle | Rocio A. Villafuerte-de la Cruz Lucas A. Garza-Garza Manuel Garza-Leon Cesar Rodriguez-De la Torre Cinthya Parra-Bernal Ilse Vazquez-Camas David Ramos-Gonzalez Andrea Rangel-Padilla Angelina Espino Barros-Palau Jose Nava-García Javier Castillo-Velazquez Erick Castillo-De Leon Agustin Del Valle-Penella Jorge E. Valdez-Garcia Augusto Rojas-Martinez Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico BMC Ophthalmology Retinal dystrophies Inherited retinopathy Pathogenic variant Mexico |
| title | Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico |
| title_full | Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico |
| title_fullStr | Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico |
| title_full_unstemmed | Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico |
| title_short | Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico |
| title_sort | spectrum of variants associated with inherited retinal dystrophies in northeast mexico |
| topic | Retinal dystrophies Inherited retinopathy Pathogenic variant Mexico |
| url | https://doi.org/10.1186/s12886-023-03276-7 |
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