J. Aboshiha
A prospective longitudinal study of retinal structure and function in achromatopsia
Aboshiha, J.; Dubis, A.M.; Cowing, J.; Fahy, R.T.A.; Sundaram, V.; Bainbridge, J.W.; Ali, R.R.; Dubra, A.; Nardini, M.; Webster, A.R.; Moore, A.T.; Rubin, G.S.; Carroll, J.; Michaelides, M.
Authors
A.M. Dubis
J. Cowing
R.T.A. Fahy
V. Sundaram
J.W. Bainbridge
R.R. Ali
A. Dubra
Professor Marko Nardini marko.nardini@durham.ac.uk
Professor
A.R. Webster
A.T. Moore
G.S. Rubin
J. Carroll
M. Michaelides
Abstract
Purpose. To longitudinally characterize retinal structure and function in achromatopsia (ACHM) in preparation for clinical gene therapy trials. Methods. Thirty-eight molecularly confirmed ACHM subjects underwent serial assessments, including spectral domain optical coherence tomography (SD-OCT), microperimetry, and fundus autofluorescence (FAF). Foveal structure on SD-OCT was graded and compared for evidence of progression, along with serial measurements of foveal total retinal thickness (FTRT) and outer nuclear layer (ONL) thickness. Fundus autofluorescence patterns were characterized and compared over time. Results. Mean follow-up was 19.5 months (age range at baseline, 6–52 years). Only 2 (5%) of 37 subjects demonstrated change in serial foveal SD-OCT scans. There was no statistically significant change over time in FTRT (P = 0.83), ONL thickness (P = 0.27), hyporeflective zone diameter (P = 0.42), visual acuity (P = 0.89), contrast sensitivity (P = 0.22), mean retinal sensitivity (P = 0.84), and fixation stability (P = 0.58). Three distinct FAF patterns were observed (n = 30): central increased FAF (n = 4), normal FAF (n = 11), and well-demarcated reduced FAF (n = 15); with the latter group displaying a slow increase in the area of reduced FAF of 0.03 mm2 over 19.3 months (P = 0.002). Conclusions. Previously published cross-sectional studies have described conflicting findings with respect to the age-dependency of progression. This study, which constitutes the largest and longest prospective longitudinal study of ACHM to date, suggests that although ACHM may be progressive, any such progression is slow and subtle in most patients, and does not correlate with age or genotype. We also describe the first serial assessment of FAF, which is highly variable between individuals, even of similar age and genotype.
Citation
Aboshiha, J., Dubis, A., Cowing, J., Fahy, R., Sundaram, V., Bainbridge, J., …Michaelides, M. (2014). A prospective longitudinal study of retinal structure and function in achromatopsia. Investigative Ophthalmology & Visual Science, 55(9), 5733-5743. https://doi.org/10.1167/iovs.14-14937
Journal Article Type | Article |
---|---|
Acceptance Date | Jul 27, 2014 |
Publication Date | Sep 11, 2014 |
Deposit Date | Aug 14, 2014 |
Journal | Investigative Ophthalmology & Visual Science |
Print ISSN | 0146-0404 |
Electronic ISSN | 1552-5783 |
Publisher | Association for Research in Vision and Ophthalmology |
Peer Reviewed | Peer Reviewed |
Volume | 55 |
Issue | 9 |
Pages | 5733-5743 |
DOI | https://doi.org/10.1167/iovs.14-14937 |
Keywords | Achromatopsia, Gene therapy, Optical coherence tomography, Retinal dystrophy, Retinal degeneration. |
Public URL | https://durham-repository.worktribe.com/output/1446708 |
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