Fundus autofluorescence features specific for EYS-associated retinitis pigmentosa

Taro Kominami, Tien-En Tan, Hiroaki Ushida, Kanika Jain, Kensuke Goto, Yasmin M Bylstra, Ai Fujita Sajiki, Ranjana S Mathur, Junya Ota, Weng Khong Lim, Koji M Nishiguchi and Beau J Fenner

PLOS ONE, 2025, vol. 20, issue 2, 1-12

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.

Date: 2025
References: View complete reference list from CitEc
Citations:

Downloads: (external link)
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0318857 (text/html)
https://journals.plos.org/plosone/article/file?id= ... 18857&type=printable (application/pdf)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:plo:pone00:0318857

DOI: 10.1371/journal.pone.0318857

Access Statistics for this article

More articles in PLOS ONE from Public Library of Science
Bibliographic data for series maintained by plosone ().