TY - JOUR
T1 - Long-term investigation of retinal function in patients with achromatopsia
AU - Georgiou, Michalis
AU - Singh, Navjit
AU - Kane, Thomas
AU - Zaman, Serena
AU - Hirji, Nashila
AU - Aboshiha, Jonathan
AU - Kumaran, Neruban
AU - Kalitzeos, Angelos
AU - Carroll, Joseph
AU - Weleber, Richard G.
AU - Michaelides, Michel
N1 - Funding Information:
Supported by grants from the National Institute for Health Research (NIHR) Biomedical Research Centre based at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, Retina UK, Onassis Foundation, Leventis Foundation, Moorfields Eye Hospital Special Trustees, Moorfields Eye Charity (R180004A), Foundation Fighting Blindness, and The Wellcome Trust (099173/Z/12/Z). The views expressed are those of the authors and not necessarily those of the National Health Service, the NIHR, or the Department of Health. Research reported in this publication was supported in part by the National Eye Institute of the National Institutes of Health (NIH) under award number R01EY017607. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH.
Funding Information:
Supported by grants from the National Institute for Health Research (NIHR) Biomedical Research Centre based at Moor-fields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, Retina UK, Onassis Foundation, Leventis Foundation, Moorfields Eye Hospital Special Trustees, Moorfields Eye Charity (R180004A), Foundation Fighting Blindness, and The Wellcome Trust (099173/Z/12/Z). The views expressed are those of the authors and not necessarily those of the National Health Service, the NIHR, or the Department of Health. Research reported in this publication was supported in part by the National Eye Institute of the National Institutes of Health (NIH) under award number R01EY017607. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH.
Publisher Copyright:
Copyright 2020 The Authors
PY - 2020/9/22
Y1 - 2020/9/22
N2 - 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.
AB - 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.
KW - Achromatopsia
KW - End-points
KW - Inherited retinal diseases
KW - Microperimetry
KW - Retinal phenotyping
KW - Retinal sensitivity
KW - Trials
KW - VFMA
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U2 - 10.1167/IOVS.61.11.38
DO - 10.1167/IOVS.61.11.38
M3 - Article
C2 - 32960951
AN - SCOPUS:85091579976
SN - 0146-0404
VL - 61
JO - Investigative Ophthalmology and Visual Science
JF - Investigative Ophthalmology and Visual Science
IS - 11
M1 - 38
ER -