The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses

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Majander , A , Joao , C , Rider , A T , Henning , G B , Votruba , M , Moore , A T , Yu-Wai-Man , P & Stockman , A 2017 , ' The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses ' , Investigative Ophthalmology & Visual Science , vol. 58 , no. 1 , pp. 502-516 . https://doi.org/10.1167/iovs.16-20309

Title: The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses
Author: Majander, Anna; Joao, Catarina; Rider, Andrew T.; Henning, G. Bruce; Votruba, Marcela; Moore, Anthony T.; Yu-Wai-Man, Patrick; Stockman, Andrew
Contributor: University of Helsinki, Department of Ophthalmology and Otorhinolaryngology
Date: 2017-01
Language: eng
Number of pages: 15
Belongs to series: Investigative Ophthalmology & Visual Science
ISSN: 0146-0404
URI: http://hdl.handle.net/10138/176840
Abstract: PURPOSE. Progressive retinal ganglion cell (RGC) loss is the pathological hallmark of autosomal dominant optic atrophy (DOA) caused by pathogenic OPA1 mutations. The aim of this study was to conduct an in-depth psychophysical study of the visual losses in DOA and to infer any selective vulnerability of visual pathways subserved by different RGC subtypes. METHODS. We recruited 25 patients carrying pathogenic OPA1 mutations and age-matched healthy individuals. Spatial contrast sensitivity functions (SCSFs) and chromatic contrast sensitivity were quantified, the latter using the Cambridge Colour Test. In 11 patients, long (L) and short (S) wavelength-sensitive cone temporal acuities were measured as a function of target illuminance, and L-cone temporal contrast sensitivity (TCSF) as a function of temporal frequency. RESULTS. Spatial contrast sensitivity functions were abnormal, with the loss of sensitivity increasing with spatial frequency. Further, the highest L-cone temporal acuity fell on average by 10 Hz and the TCSFs by 0.66 log(10) unit. Chromatic thresholds along the protan, deutan, and tritan axes were 8, 9, and 14 times higher than normal, respectively, with losses increasing with age and S-cone temporal acuity showing the most significant age-related decline. CONCLUSIONS. Losses of midget parvocellular, parasol magnocellular, and bistratified koniocellular RGCs could account for the losses of high spatial frequency sensitivity and protan and deutan sensitivities, high temporal frequency sensitivity, and S-cone temporal and tritan sensitivities, respectively. The S-cone-related losses showed a significant deterioration with increasing patient age and could therefore prove useful biomarkers of disease progression in DOA.
Subject: dominant optic atrophy (DOA)
OPA1
critical flicker fusion
magnocellular
koniocellular
parvocellular
LATERAL GENICULATE LESIONS
INNER PLEXIFORM LAYER
CONTRAST-SENSITIVITY
MAMMALIAN RETINA
VISUAL-SYSTEM
COLOR DISCRIMINATION
PRIMATE RETINA
OPA1 MUTATIONS
CONE SIGNALS
VISION
3125 Otorhinolaryngology, ophthalmology
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