Long-term investigation of retinal function in patients with achromatopsia

Michalis Georgiou, Navjit Singh, Thomas Kane, Serena Zaman, Nashila Hirji, Jonathan Aboshiha, Neruban Kumaran, Angelos Kalitzeos, Joseph Carroll, Richard G. Weleber, Michel Michaelides

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


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 (V) 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, V) was found. A significant negative correlation between logCS and MS, VTOT, and V was also observed. BCVA and BCEA improved during follow-up. Mean CS, MS, VTOT, and V 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.

Original languageEnglish (US)
Article number38
JournalInvestigative Ophthalmology and Visual Science
Issue number11
StatePublished - Sep 22 2020


  • Achromatopsia
  • End-points
  • Inherited retinal diseases
  • Microperimetry
  • Retinal phenotyping
  • Retinal sensitivity
  • Trials
  • VFMA

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience


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