Retinal Architecture in ​RGS9- and ​R9AP-Associated Retinal Dysfunction (Bradyopsia)

American Journal of Ophthalmology
Rupert W StraussMichel Michaelides

Abstract

To characterize photoreceptor structure and mosaic integrity in subjects with ​RGS9- and R9AP-associated retinal dysfunction (bradyopsia) and compare to previous observations in other cone dysfunction disorders such as oligocone trichromacy. Observational case series. setting: Moorfields Eye Hospital (United Kingdom) and Medical College Wisconsin (USA). Six eyes of 3 subjects with disease-causing variants in ​RGS9 or R9AP. Detailed retinal imaging using spectral-domain optical coherence tomography and confocal adaptive-optics scanning light ophthalmoscopy. Cone density at 100 μm from foveal center ranged from 123 132 cones/mm(2) to 140 013 cones/mm(2). Cone density ranged from 30 573 to 34 876 cones/mm(2) by 600 μm from center and from 15 987 to 16,253 cones/mm(2) by 1400 μm from center, in keeping with data from normal subjects. Adaptive-optics imaging identified a small, focal hyporeflective lesion at the foveal center in both eyes of the subject with RGS9-associated disease, corresponding to a discrete outer retinal defect also observed on spectral-domain optical coherence tomography; however, the photoreceptor mosaic remained intact at all other observed eccentricities. Bradyopsia and oligocone trichromacy share common clin...Continue Reading

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Citations

Nov 17, 2017·The British Journal of Ophthalmology·Michalis GeorgiouMichel Michaelides
Mar 12, 2018·Documenta Ophthalmologica. Advances in Ophthalmology·Vasily Mikhaïlovitch SmirnovSabine Defoort-Dhellemmes
May 14, 2021·The British Journal of Ophthalmology·Malena Daich VarelaMichel Michaelides

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Methods Mentioned

BETA
scanning light ophthalmoscopy
light ophthalmoscopy

Software Mentioned

ImageJ
Adobe Photoshop
Matlab MATLAB
Matlab

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