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Article Abstract
Purpose: To assess the utility of fundus autofluorescence (FAF) patterns for predicting the EYS genotype in retinitis pigmentosa (RP) patients.
Methods: This 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.
Results: The 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.
Conclusions: In 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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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11838866 | PMC |
| http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0318857 | PLOS |
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