Genetic and clinical characterization of suspected retinitis pigmentosa in a cohort of Brazilian patients.

Sarah Pereira de Freitas Cenachi, Maria Frasson, Anna Laura Marques Nascentes, Anna Luiza Braga Albuquerque, Rodrigo Rezende Arantes, Virgínia Mares, Luiz Armando Cunha De Marco, Márcio Bittar Nehemy

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Article in Molecular vision, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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Sarah Pereira de Freitas CenachiDepartment of Ophthalmology, Federal University of Minas Gerais, Belo Horizonte, Brazil.

Maria FrassonDepartment of Ophthalmology, Federal University of Minas Gerais, Belo Horizonte, Brazil.

Anna Laura Marques NascentesGenetics Service, Federal University of Minas Gerais, Belo Horizonte, Brazil.

Anna Luiza Braga AlbuquerqueDepartment of Surgery, Federal University of Minas Gerais, Belo Horizonte, Brazil.

Rodrigo Rezende ArantesGenetics Service, Federal University of Minas Gerais, Belo Horizonte, Brazil.

Virgínia MaresDepartment of Ophthalmology, Federal University of Minas Gerais, Belo Horizonte, Brazil.

Luiz Armando Cunha De MarcoDepartment of Surgery, Federal University of Minas Gerais, Belo Horizonte, Brazil.

Márcio Bittar NehemyDepartment of Ophthalmology, Federal University of Minas Gerais, Belo Horizonte, Brazil.

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6 · The paper itself

Abstract

Purpose: To identify causative genetic variants and associated clinical phenotypes in patients of a tertiary referral center in Brazil with suspected retinitis pigmentosa (RP). Methods: RP diagnosis was established based on predefined clinical criteria. The patients underwent detailed ophthalmologic assessments and multimodal retinal imaging. Genomic DNA was analyzed using a next-generation sequencing (NGS) panel targeting 238 genes associated with inherited retinal diseases. Results: Among 55 patients, the genetic diagnostic yield was 71% (39/55), with 13 novel variants identified. The most frequently implicated genes were Conclusions: This study delineates the genetic and phenotypic spectrum of RP in a tertiary Brazilian referral center, highlighting the utility of NGS for molecular diagnosis and clinical management.

Indexed as

Retinitis PigmentosaAdolescentAdultAgedBrazilCohort StudiesExtracellular Matrix ProteinsFemaleHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedMutationPhenotypeTomography, Optical CoherenceVisual AcuityExtracellular Matrix ProteinsUSH2A protein, human

Identifiers

PMID41867384

PMCPMC13002941

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