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Adaptive optics scanning laser ophthalmoscopy in a heterogenous cohort with Stargardt disease
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Adaptive optics scanning laser ophthalmoscopy in a heterogenous cohort with Stargardt disease
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Journal Article
Adaptive optics scanning laser ophthalmoscopy in a heterogenous cohort with Stargardt disease
2024
Overview
Image based cell-specific biomarkers will play an important role in monitoring treatment outcomes of novel therapies in patients with Stargardt (STGD1) disease and may provide information on the exact mechanism of retinal degeneration. This study reports retinal image features from conventional clinical imaging and from corresponding high-resolution imaging with a confocal adaptive optics scanning laser ophthalmoscope (AOSLO) in a heterogenous cohort of patients with Stargardt (STGD1) disease. This is a prospective observational study in which 16 participants with clinically and molecularly confirmed STGD1, and 7 healthy controls underwent clinical assessment and confocal AOSLO imaging. Clinical assessment included short-wavelength and near-infrared fundus autofluorescence, spectral-domain optical coherence tomography, and macular microperimetry. AOSLO images were acquired over a range of retinal eccentricities (0°–20°) and mapped to areas of interest from the clinical images. A regular photoreceptor mosaic was identified in areas of normal or near normal retinal structure on clinical images. Where clinical imaging indicated areas of retinal degeneration, the photoreceptor mosaic was disorganised and lacked unambiguous cones. Discrete hyper-reflective foci were identified in 9 participants with STGD1 within areas of retinal degeneration. A continuous RPE cell mosaic at the fovea was identified in one participant with an optical gap phenotype. The clinical heterogeneity observed in STGD1 is reflected in the findings on confocal AOSLO imaging.
Publisher
Nature Publishing Group UK,Nature Publishing Group,Nature Portfolio
Subject
/ ABCA4
/ Adaptive optics scanning laser ophthalmoscope
/ Adult
/ AOSLO
/ Cones
/ Female
/ Humanities and Social Sciences
/ Humans
/ Macular Degeneration - congenital
/ Macular Degeneration - diagnostic imaging
/ Macular Degeneration - pathology
/ Male
/ Optics
/ Patients
/ Retina
/ Retinal Pigment Epithelium - diagnostic imaging
/ Retinal Pigment Epithelium - pathology
/ Science
/ Stargardt Disease - diagnostic imaging
