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Long-Term Investigation of Retinal Function in Patients with Achromatopsia.

Georgiou, M; Singh, N; Kane, T; Zaman, S; Hirji, N; Aboshiha, J; Kumaran, N; ... Michaelides, M; + view all (2020) Long-Term Investigation of Retinal Function in Patients with Achromatopsia. Investigative Ophthalmology & Visual Science , 61 (11) , Article 38. 10.1167/iovs.61.11.38. Green open access

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Abstract

PURPOSE: To investigate the long-term natural history of retinal function of achromatopsia (ACHM). METHODS: Subjects with molecularly confirmed ACHM were recruited in a prospective cohort study of mesopic microperimetry. Coefficient of repeatability and intraclass correlation coefficient (ICC) of mean sensitivity (MS) were calculated. Best-corrected visual acuity (BCVA), bivariate contour ellipse area (BCEA), contrast sensitivity (CS), MS, total volume (VTOT), and central field volume (V5°) from volumetric and topographic analyses were acquired. Correlation of functional parameters with structural findings from optical coherence tomography (OCT) was performed. RESULTS: Eighteen subjects were recruited. Mean follow-up was 7.2 years. The MS test-retest repeatability coefficient was 1.65 decibels (dB), and the ICC was 0.973 (95% confidence interval, 0.837-0.98). Mean MS was similar for right and left eyes (16.97dB and 17.14dB, respectively). A negative significant correlation between logMAR BCVA and the retinal sensitivity indices (MS, VTOT, V5°) was found. A significant negative correlation between logCS and MS, VTOT, and V5° was also observed. BCVA and BCEA improved during follow-up. Mean CS, MS, VTOT, and V5° at final follow-up were similar to baseline. MS was similar between CNGA3- and CNGB3-ACHM. Patients with and without the presence of a foveal ellipsoid zone on OCT had similar MS (16.64 dB and 17.17 dB, respectively). CONCLUSIONS: We demonstrate a highly reproducible assessment of MS. Retinal function including MS, volumetric indices, and CS are stable in ACHM. Improvement of fixation stability and small changes of BCVA over time may be part of the natural history of the disease.

Type: Article
Title: Long-Term Investigation of Retinal Function in Patients with Achromatopsia.
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1167/iovs.61.11.38
Publisher version: https://doi.org/10.1167/iovs.61.11.38
Language: English
Additional information: Copyright 2020 The Authors. This work is licensed under a Creative Commons Attribution 4.0 International License
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/10111176
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