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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.


J. Aboshiha

A.M. Dubis

J. Cowing

R.T.A. Fahy

V. Sundaram

J.W. Bainbridge

R.R. Ali

A. Dubra

A.R. Webster

A.T. Moore

G.S. Rubin

J. Carroll

M. Michaelides


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.


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.

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
Keywords Achromatopsia, Gene therapy, Optical coherence tomography, Retinal dystrophy, Retinal degeneration.