Fundus autofluorescence features specific for EYS-associated retinitis pigmentosa.

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

Ngôn ngữ: eng

Ký hiệu phân loại: 547.27 Reactions producing specific kinds of organic compounds

Thông tin xuất bản: United States : PloS one , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 504381

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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