Mutational Profile and Retinal Phenotypes of PCARE -Related Cone-Rod Dystrophies in a Mexican Cohort
Por:
López-Rodríguez V.R., Arce-González R., Martínez-Aguilar A., Rodríguez-López C.E., Groman-Lupa S., Neria-González M.I., Rodríguez-Uribe G., Zenteno J.C.
Publicada:
1 ene 2024
Categoría:
Ophthalmology
Resumen:
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. © 2024 Víctor R. López-Rodríguez et al.
Filiaciones:
Department of Genetics, Institute of Ophthalmology Conde de Valenciana, Mexico City, Mexico
Retinal Dystrophies Clinic, Institute of Ophthalmology Conde de Valenciana, Mexico City, Mexico
Retina Department, Institute of Ophthalmology Conde de Valenciana, Mexico City, Mexico
CODET Vision Institute, Tijuana, Mexico
Laboratory of Integrative Microbiology and Molecular Biology, Division of Chemical and Biochemical Engineering, TecNm: Tecnológico de Estudios Superiores de Ecatepec, Ecatepec de Morelos, Estado de México, Mexico
Facultad de Medicina y Psicologia, Universidad Autónoma de Baja California, Tijuana, Mexico
Department of Biochemistry, Faculty of Medicine, UNAM, Mexico City, Mexico
Rare Disease Diagnostic Unit, Faculty of Medicine, National Autonomous University of Mexico (UNAM), Mexico City, Mexico
gold, All Open Access; Gold Open Access
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