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Longitudinal Assessment of Retinal Structure in Achromatopsia Patients With Long-Term Follow-up

Hirji, N; Georgiou, M; Kalitzeos, A; Bainbridge, JW; Kumaran, N; Aboshiha, J; Carroll, J; (2018) Longitudinal Assessment of Retinal Structure in Achromatopsia Patients With Long-Term Follow-up. Investigative Ophthalmology & Visual Science , 59 (15) pp. 5735-5744. 10.1167/iovs.18-25452. Green open access

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Abstract

PURPOSE: To longitudinally characterize structural retinal changes in achromatopsia (ACHM) over extended follow-up. METHODS: Fifty molecularly confirmed ACHM subjects underwent serial spectral-domain optical coherence tomography (SD-OCT) and fundus autofluorescence (FAF) imaging. Foveal structure on SD-OCT was graded and compared for evidence of progression, and foveal total retinal thickness (FTRT) and outer nuclear layer (ONL) thickness were serially measured. FAF patterns were characterized and compared over time. RESULTS: Mean SD-OCT follow-up was 61.6 months (age range at baseline, 6–52 years). Forty-five of the subjects had serial FAF (mean follow-up: 48.5 months). Only 6 (12%) of the subjects demonstrated qualitative change on serial foveal SD-OCT scans. Among the entire cohort, there was no statistically significant change over time in FTRT (P = 0.2459) or hyporeflective zone (HRZ) diameter (P = 0.3737). There was a small—but statistically significant—increase in ONL thickness (P = 0.0084). Three different FAF patterns were observed: centrally increased FAF (13/45), normal FAF (14/45), and well-demarcated reduced FAF (18/45), with the latter group displaying a small gradual increase in the area of reduced FAF of 0.055 mm2 over 43.4 months (P = 0.0011). CONCLUSIONS: This longitudinal study of retinal structure in ACHM represents the largest cohort and longest follow-up period to date. Our findings support the presiding notion that ACHM is essentially a stationary condition regarding retinal structure, and any change over time is likely to be small, slow, and variable across patients. This may potentially afford a wider window for therapeutic intervention.

Type: Article
Title: Longitudinal Assessment of Retinal Structure in Achromatopsia Patients With Long-Term Follow-up
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1167/iovs.18-25452
Publisher version: https://doi.org/10.1167/iovs.18-25452
Language: English
Additional information: Copyright 2018 The Authors. This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (http://creativecommons.org/licenses/by-nc-nd/4.0)
UCL classification: UCL
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/10063710
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