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

Molecular vision - 1 Jan 2025

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

Abstract excerpt

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...

Topics

Humans
Retinitis Pigmentosa
Brazil
Female
Tomography, Optical Coherence
Male
Adult
Phenotype
Middle Aged
High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Extracellular Matrix Proteins

Cohort Studies

Young Adult

Visual Acuity

Adolescent

Aged

Source

Open in PubMed Open full text

Identifiers

PMID: 41867384
PMCID: PMC13002941

Genes

RHO
RPGR
USH2A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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