ArticleEye (London, England)2024
When do patients with retinitis pigmentosa present to ophthalmologists? A multi-centre retrospective study.
Article in Eye (London, England), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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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.
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Who cites it
1 citing paper in PubMed.
- Phenotypic Distinctions Between EYS- and USH2A-Associated Retinitis Pigmentosa in an Asian Population.Translational vision science & technology · 2025Article
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Authors and funding
9 authors.
Funding
Abstract
backgroundPlanned gene therapies for retinitis pigmentosa (RP) depend on viable photoreceptors for efficacy. Understanding disease severity at presentation, and drivers that influence time to presentation is important when planning interventions. We examined features that influence RP severity at initial presentation.
methodsMulti-centre retrospective cohort study of RP patients at initial presentation. Disease severity was scored using ellipsoid zone (EZ) width on SD-OCT and logistic regression used to determine risk factors for advanced disease at presentation.
resultsA total of 146 unrelated RP patients were included. Median age at onset and presentation was 40.5 (range 1-74) and 50.1 (range 3.9-81.8), respectively. Severe disease (<5° of remaining EZ width) was present in 28.1% of cases at presentation. Patients with family history of RP had greater odds of severe disease (OR 3.29, 95% CI 1.56, 6.95; p = 0.002), while male gender, race, age, syndromic features, and socioeconomic status did not. Patients with affected siblings (median EZ width 6.2°; p = 0.01), but not affected parents (median EZ width 9.4°; p = 0.99), presented with severe EZ loss compared to patients without family history (median EZ width 13.1°). Patients with affected siblings had delayed presentation (≥5 years; OR 5.76, 95% CI 1.817, 18.262; p = 0.003) compared to patients without family history.
conclusionsFamily history influences the stage of disease at which RP patients initially seek ophthalmology review. This has implications for patient counselling and the number of patients who may benefit from future therapies.
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