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Article

Clinical and Imaging Characteristics of PRPH2 Retinopathies in a Longitudinal Cohort and Diagnostic Implications.

Investigative ophthalmology & visual science - 2 Dec 2024

Seddon Johanna M, De Dikha, Grunenkovaite Laura, Ferrara Daniela

Abstract excerpt

Purpose: The purpose of this study was to define genotypic-phenotypic correlations related to PRPH2-associated retinopathies in an observational longitudinal cohort and to improve diagnostic accuracy. Methods: Individuals with PRPH2 variants were identified by genetic sequencing of 263 individuals (including 59 families). Ocular examinations with multimodal imaging were evaluated. Results: Two pathogenic/likely...

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Source

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Identifiers

PMID: 39693084
DOI: 10.1167/iovs.65.14.31
PMCID: PMC11668351

Genes

PRPH2
RPE

Variants

rs121918563

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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