Cone Abnormalities in Fundus Albipunctatus Associated with RDH5 Mutations Assessed Using Adaptive Optics Scanning Laser Ophthalmoscopy – Accepted Manuscript

Abstract: Purpose: To assess macular photoreceptor abnormalities in eyes with fundus albipunctatus with RDH5 mutation by using adaptive optics scanning laser ophthalmoscopy (AO-SLO).Design: Prospective cross-sectional study.Methods: Ten eyes with fundus albipunctatus and 11 normal eyes underwent a full ophthalmologic examination, microperimetry, spectral-domain optical coherence tomography (SD-OCT), and imaging with a prototype AO-SLO system. Cone density and spatial organization of the cone mosaic were assessed using AO-SLO images. Statistical analysis was done using right eye per one patient.Results: Four patients had the same mutation in RDH5 (c.928delC/ insGAAG), and 1 patient had a novel mutation in RDH5 (c.718delG). AO-SLO revealed the (Read more...)

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