Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort
Purpose. The aim of the study is to describe the genotype and phenotype of a Mexican cohort with PCARE-related retinal disease. Methods. The study included 14 patients from 11 unrelated pedigrees with retinal dystrophies who were demonstrated to carry biallelic pathogenic variants in PCARE. Visual a...
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| Format: | Article |
| Language: | English |
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Wiley
2024-01-01
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| Series: | Journal of Ophthalmology |
| Online Access: | http://dx.doi.org/10.1155/2024/4003914 |
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| author | Víctor R. López-Rodríguez Rocío Arce-González Alan Martínez-Aguilar Carlos E. Rodríguez-López Sergio Groman-Lupa M. Isabel Neria-González Genaro Rodríguez-Uribe Juan C. Zenteno |
| author_facet | Víctor R. López-Rodríguez Rocío Arce-González Alan Martínez-Aguilar Carlos E. Rodríguez-López Sergio Groman-Lupa M. Isabel Neria-González Genaro Rodríguez-Uribe Juan C. Zenteno |
| author_sort | Víctor R. López-Rodríguez |
| collection | DOAJ |
| description | Purpose. The aim of the study is to describe the genotype and phenotype of a Mexican cohort with PCARE-related retinal disease. Methods. The study included 14 patients from 11 unrelated pedigrees with retinal dystrophies who were demonstrated to carry biallelic pathogenic variants in PCARE. Visual assessment methods included best corrected visual acuity, color fundus photography, Goldmann visual field test, kinetic perimetry, dark/light adapted chromatic perimetry, full-field electroretinography, autofluorescence imaging, and spectral domain-optical coherence tomography imaging. Genetic screening was performed either by gene panel sequencing or by exome sequencing. Results. According to the results of multimodal imaging and functional tests, all 14 patients were diagnosed with cone-rod dystrophy. Six different PCARE pathogenic alleles were identified in our cohort, including three novel mutations: c.3048_3049del (p.Tyr1016∗), c.3314_3315del (p.Ser1105∗), and c.551A > G (p.His184Arg). Notably, alleles p.His184Arg, p.Arg613∗, and p.Arg984∗ were present in 18 of the 22 (82%) PCARE alleles from probands in our cohort. Conclusion. Our work expands the PCARE mutational profile by identifying three novel pathogenic variants causing retinal dystrophy. While phenotypic variations occurred among patients, a cone-rod dystrophy pattern was observed in all affected individuals. |
| format | Article |
| id | doaj-art-fd29d355a5a0441aad15c11d0c059b1d |
| institution | Kabale University |
| issn | 2090-0058 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Ophthalmology |
| spelling | doaj-art-fd29d355a5a0441aad15c11d0c059b1d2025-02-03T06:14:54ZengWileyJournal of Ophthalmology2090-00582024-01-01202410.1155/2024/4003914Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican CohortVíctor R. López-Rodríguez0Rocío Arce-González1Alan Martínez-Aguilar2Carlos E. Rodríguez-López3Sergio Groman-Lupa4M. Isabel Neria-González5Genaro Rodríguez-Uribe6Juan C. Zenteno7Department of GeneticsDepartment of GeneticsRetinal Dystrophies ClinicRetina DepartmentCODET Vision InstituteLaboratory of Integrative Microbiology and Molecular BiologyCODET Vision InstituteDepartment of GeneticsPurpose. The aim of the study is to describe the genotype and phenotype of a Mexican cohort with PCARE-related retinal disease. Methods. The study included 14 patients from 11 unrelated pedigrees with retinal dystrophies who were demonstrated to carry biallelic pathogenic variants in PCARE. Visual assessment methods included best corrected visual acuity, color fundus photography, Goldmann visual field test, kinetic perimetry, dark/light adapted chromatic perimetry, full-field electroretinography, autofluorescence imaging, and spectral domain-optical coherence tomography imaging. Genetic screening was performed either by gene panel sequencing or by exome sequencing. Results. According to the results of multimodal imaging and functional tests, all 14 patients were diagnosed with cone-rod dystrophy. Six different PCARE pathogenic alleles were identified in our cohort, including three novel mutations: c.3048_3049del (p.Tyr1016∗), c.3314_3315del (p.Ser1105∗), and c.551A > G (p.His184Arg). Notably, alleles p.His184Arg, p.Arg613∗, and p.Arg984∗ were present in 18 of the 22 (82%) PCARE alleles from probands in our cohort. Conclusion. Our work expands the PCARE mutational profile by identifying three novel pathogenic variants causing retinal dystrophy. While phenotypic variations occurred among patients, a cone-rod dystrophy pattern was observed in all affected individuals.http://dx.doi.org/10.1155/2024/4003914 |
| spellingShingle | Víctor R. López-Rodríguez Rocío Arce-González Alan Martínez-Aguilar Carlos E. Rodríguez-López Sergio Groman-Lupa M. Isabel Neria-González Genaro Rodríguez-Uribe Juan C. Zenteno Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort Journal of Ophthalmology |
| title | Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort |
| title_full | Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort |
| title_fullStr | Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort |
| title_full_unstemmed | Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort |
| title_short | Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort |
| title_sort | mutational profile and retinal phenotypes of pcare related cone rod dystrophies in a mexican cohort |
| url | http://dx.doi.org/10.1155/2024/4003914 |
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