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A prospective longitudinal study of retinal structure and function in achromatopsia

Aboshiha, J; Dubis, AM; Cowing, J; Fahy, RT; Sundaram, V; Bainbridge, JW; Ali, RR; ... Michaelides, M; + view all (2014) A prospective longitudinal study of retinal structure and function in achromatopsia. Invest Ophthalmol Vis Sci 10.1167/iovs.14-14937. Green open access

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Abstract

Purpose: To longitudinally characterize retinal structure and function in achromatopsia (ACHM) in preparation for clinical gene therapy trials. Methods: 38 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. FAF patterns were characterized and compared over time. Results: Mean follow-up was 19.5 months (age range at baseline: 6-52 years). Only 2 of 37 subjects (5%) 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 (HRZ) 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.

Type: Article
Title: A prospective longitudinal study of retinal structure and function in achromatopsia
Open access status: An open access version is available from UCL Discovery
DOI: 10.1167/iovs.14-14937
Publisher version: http://dx.doi.org/10.1167/iovs.14-14937
Language: English
Additional information: This is the authors' accepted version of this published article.
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/1442959
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