Retinal Architecture in RGS9- and R9AP-Associated Retinal Dysfunction (Bradyopsia). Am J Ophthalmol 2015 Dec;160(6):1269-1275.e1
Date
09/08/2015Pubmed ID
26343007Pubmed Central ID
PMC4653116DOI
10.1016/j.ajo.2015.08.032Scopus ID
2-s2.0-84945577613 (requires institutional sign-in at Scopus site) 14 CitationsAbstract
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/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.
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.
Author List
Strauss RW, Dubis AM, Cooper RF, Ba-Abbad R, Moore AT, Webster AR, Dubra A, Carroll J, Michaelides MAuthors
Joseph J. Carroll PhD Director, Professor in the Ophthalmology and Visual Sciences department at Medical College of WisconsinRobert F. Cooper Ph.D Assistant Professor in the Biomedical Engineering department at Marquette University
MESH terms used to index this publication - Major topics in bold
Adaptor Proteins, Signal TransducingAdolescent
Adult
Electroretinography
Eye Diseases, Hereditary
Female
Fluorescein Angiography
Fundus Oculi
Humans
Male
Membrane Proteins
Middle Aged
Ophthalmoscopy
RGS Proteins
Retinal Cone Photoreceptor Cells
Tomography, Optical Coherence
Visual Acuity
