Characterising PRPF31-associated retinal dystrophy: Clinical insights from baseline data in a natural history study.

doi:10.1111/aos.70005

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Article

Characterising PRPF31-associated retinal dystrophy: Clinical insights from baseline data in a natural history study.

Acta ophthalmologica - 1 May 2026

Eriksen Kathrine Olaussen, Eidet Jon Roger, Kjellström Ulrika, Baldesi Jacopo, Bragadóttir Ragnheidur, Colombo Leonardo, Holtan Josephine Prener

Abstract excerpt

PURPOSE: To characterise the baseline clinical features and genotypes of adults with pre-mRNA processing factor 31 (PRPF31)-associated retinal dystrophy (RD) enrolled in a prospective, multicentre 4-year natural history study, and to explore correlations between selected baseline parameters. METHODS: Thirty-one patients with PRPF31-RD underwent comprehensive multimodal assessment, including slit-lamp...

Topics

Humans
Male
Middle Aged
Female
Adult
Tomography, Optical Coherence
Prospective Studies
Visual Acuity
Aged
Young Adult
Eye Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Aged, 80 and over

Fluorescein Angiography

Retinal Dystrophies

Visual Fields

Visual Field Tests

Fundus Oculi

Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 40977613
DOI: 10.1111/aos.70005
PMCID: PMC13058679

Genes

PRPF31
FST

Provenance

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

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