Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
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SHR Neuro Krebs Kardio Lipid Stoffw Microb
Strauss, RW; Dubis, AM; Cooper, RF; Ba-Abbad, R; Moore, AT; Webster, AR; Dubra, A; Carroll, J; Michaelides, M.
Retinal Architecture in RGS9- and R9AP-Associated Retinal Dysfunction (Bradyopsia).
Am J Ophthalmol. 2015; 160(6):1269-1275
Doi: 10.1016/j.ajo.2015.08.032
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- Strauß Rupert
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- 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 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. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.
- Find related publications in this database (using NLM MeSH Indexing)
- Adaptor Proteins, Signal Transducing - metabolism
- Adolescent -
- Adult -
- Electroretinography -
- Eye Diseases, Hereditary - diagnosis
- Eye Diseases, Hereditary - metabolism
- Eye Diseases, Hereditary - physiopathology
- Female -
- Fluorescein Angiography -
- Fundus Oculi -
- Humans -
- Male -
- Membrane Proteins - metabolism
- Middle Aged -
- Ophthalmoscopy -
- RGS Proteins - metabolism
- Retinal Cone Photoreceptor Cells - metabolism
- Retinal Cone Photoreceptor Cells - pathology
- Tomography, Optical Coherence - methods
- Visual Acuity -