Long-Term Investigation of Retinal Function in Patients with Achromatopsia. Invest Ophthalmol Vis Sci 2020 Sep 01;61(11):38
Date
09/23/2020Pubmed ID
32960951Pubmed Central ID
PMC7509756DOI
10.1167/iovs.61.11.38Scopus ID
2-s2.0-85091579976 (requires institutional sign-in at Scopus site) 20 CitationsAbstract
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.
Author List
Georgiou M, Singh N, Kane T, Zaman S, Hirji N, Aboshiha J, Kumaran N, Kalitzeos A, Carroll J, Weleber RG, Michaelides MAuthor
Joseph J. Carroll PhD Director, Professor in the Ophthalmology and Visual Sciences department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdolescentAdult
Aged
Child
Color Vision Defects
Female
Follow-Up Studies
Fovea Centralis
Humans
Male
Middle Aged
Prospective Studies
Time Factors
Tomography, Optical Coherence
Visual Acuity
Visual Fields
Young Adult
