ArticleActa ophthalmologica2026
Characterising PRPF31-associated retinal dystrophy: Clinical insights from baseline data in a natural history study.
Article in Acta ophthalmologica, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
2 citing papers in PubMed.
- Mesopic microperimetry in Stargardt disease: Application and reliability.Acta ophthalmologica · 2026Trial
- Single-Cell Transcriptomics onBiomedicines · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
Abstract
purposeTo 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.
methodsThirty-one patients with PRPF31-RD underwent comprehensive multimodal assessment, including slit-lamp ophthalmoscopy, best-corrected visual acuity (BCVA), low-luminance visual acuity (LLVA), mesopic and scotopic microperimetry (MP), full-field stimulus threshold (FST) testing, spectral-domain optical coherence tomography (SD-OCT) to assess retinal structure and measure ellipsoid zone (EZ) width, and ultra-widefield fundus autofluorescence (UWF-FAF) to define hyperautofluorescent ring (HAR) area. Correlations between structural and functional measures were analysed using Spearman's rank correlation.
resultsPatients from 21 families carrying 17 distinct disease-causing variants in the PRPF31 gene were identified. The median age was 38 years (range 19-84). Thirty patients exhibited a classic retinitis pigmentosa (RP) phenotype, and one had a pericentral pattern of dystrophy. Frequent findings included cystoid macular oedema (52%), epiretinal membrane (55%) and current or prior cataract (71%). Most patients could complete FST (84%-90%) and mesopic MP testing (77%), while measures of scotopic MP (57%), HAR area (52%) and EZ (68%) excluded the more advanced-staged patients. The HAR area correlated strongly with the functional measures mesopic MP and FST white. The HAR area, EZ width and scotopic MP were also strongly correlated.
conclusionThis study confirms phenotypic variability in PRPF31-RD and expands the spectrum with pericentral RD. The feasibility of structural and functional assessments depended on disease stage, with scotopic cyan MP limited to eyes with preserved HAR and EZ.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.