ArticlePloS one2025
Fundus autofluorescence features specific for EYS-associated retinitis pigmentosa.
Article in PloS one, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Sex Distributions in the Most Frequent Autosomal Genetic Causes of Retinitis Pigmentosa.Investigative ophthalmology & visual science · 2025Article
- Genetic and clinical characterization of suspected retinitis pigmentosa in a cohort of Brazilian patients.Molecular vision · 2025Article
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Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo assess the utility of fundus autofluorescence (FAF) patterns for predicting the EYS genotype in retinitis pigmentosa (RP) patients.
methodsThis retrospective, multi-institutional study analyzed FAF images from 200 RP patients (74 with EYS and 126 without EYS) from Singapore and Japan. Seven FAF patterns including the infinity sign and a broad banded hyper-autofluorescent leading edge were evaluated for their association with the EYS genotype.
resultsThe infinity sign and broad banded hyperautofluorescent leading edge occurred more frequently in EYS eyes (p = 0.0014 and p = 0.036 respectively). Logistic regression analysis showed that the infinity sign was predictive of EYS (p = 0.003). The combined FAF parameters predicted EYS with a specificity of 95.20%, sensitivity of 25.68% and accuracy of 69.50%, with a cut-off value 0.5 based on the probability of seven FAF parameters.
conclusionsIn this multinational cohort study of patients with RP, we demonstrated that specific FAF patterns, particularly the infinity sign, have clinical utility in identifying patients with EYS-associated disease. These findings may be useful for clinicians and geneticists when genotyping patients with RP, and may also enhance our understanding of underlying pathophysiology of EYS-associated RP, which is a prevalent cause of RP in Asia and elsewhere.
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