Strauss, RW;
Dubis, AM;
Cooper, RF;
Ba-Abbad, R;
Moore, AT;
Webster, AR;
Dubra, A;
... Michaelides, M; + view all
(2015)
Retinal Architecture in RGS9- and R9AP-Associated Retinal Dysfunction (Bradyopsia).
American Journal of Ophthalmology
, 160
(6)
1269-1275.e1.
10.1016/j.ajo.2015.08.032.
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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/mm2 to 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.
| Type: | Article |
|---|---|
| Title: | Retinal Architecture in RGS9- and R9AP-Associated Retinal Dysfunction (Bradyopsia) |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.ajo.2015.08.032 |
| Publisher version: | http://dx.doi.org/10.1016/j.ajo.2015.08.032 |
| Language: | English |
| Additional information: | Copyright © 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/). |
| Keywords: | science & technology, life sciences & biomedicine, ophthalmology, optics scanning ophthalmoscope, oligocone trichromacy, cone opsin, variability, disruption, morphology, integrity, albinism, density, anchor |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1480705 |
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