Document Type
Article
Language
eng
Publication Date
12-2015
Publisher
Elsevier
Source Publication
American Journal of Ophthalmology
Source ISSN
0002-9432
Abstract
Purpose
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.
Design
Observational case series.
Methods
setting: Moorfields Eye Hospital (United Kingdom) and Medical College Wisconsin (USA). study population: Six eyes of 3 subjects with disease-causing variants in RGS9 or R9AP. main outcome measures: Detailed retinal imaging using spectral-domain optical coherence tomography and confocal adaptive-optics scanning light ophthalmoscopy.
Results
Cone density at 100 μm from foveal center ranged from 123 132 cones/mm2to 140 013 cones/mm2. Cone density ranged from 30 573 to 34 876 cones/mm2 by 600 μm from center and from 15 987 to 16,253 cones/mm2 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.
Conclusions
Bradyopsia and oligocone trichromacy share common clinical symptoms and cannot be discerned on standard clinical findings alone. Adaptive-optics imaging previously demonstrated a sparse mosaic of normal wave-guiding cones remaining at the fovea, with no visible structure outside the central fovea in oligocone trichromacy. In contrast, the subjects presented in this study with molecularly confirmed bradyopsia had a relatively intact and structurally normal photoreceptor mosaic, allowing the distinction between these disorders based on the cellular phenotype and suggesting different pathomechanisms.
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.
Recommended Citation
Strauss, Rupert W.; Dubis, Adam M.; Cooper, Robert F.; Ba-Abbad, Rola; Moore, Anthony T.; Webster, Andrew R.; Dubra, Alfredo; Carroll, Joseph; and Michaelides, Michel, "Retinal Architecture in RGS9- and R9AP-Associated Retinal Dysfunction (Bradyopsia)" (2015). Biomedical Engineering Faculty Research and Publications. 544.
https://epublications.marquette.edu/bioengin_fac/544
Comments
Published version. American Journal of Ophthalmology, Vol. 160, No. 6 (December 2015): 1269-1275. DOI. © 2015 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).)