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Long-Term Investigation of Retinal Function in Patients with Achromatopsia
Michalis Georgiou1,2, Navjit Singh1,2, Thomas Kane1,2
1UCL Institute of Ophthalmology, University College London, London, United Kingdom.
Investigative Ophthalmology & Visual Science
|September 22, 2020
Summary
Retinal function in achromatopsia (ACHM) is stable over time, with reproducible measurements of mean sensitivity. Visual acuity and fixation stability may improve slightly in patients with ACHM.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Function
Background:
- Achromatopsia (ACHM) is a rare inherited retinal disorder.
- Understanding the long-term natural history of ACHM is crucial for patient management and therapeutic development.
Purpose of the Study:
- To investigate the long-term natural history of retinal function in patients with achromatopsia (ACHM).
Main Methods:
- Prospective cohort study involving molecularly confirmed ACHM subjects.
- Mesopic microperimetry used to assess retinal function, including mean sensitivity (MS).
- Optical coherence tomography (OCT) used for structural correlation.
Main Results:
- Mean MS measurements demonstrated high repeatability (ICC=0.973).
- Retinal sensitivity indices (MS, VTOT, V5°) showed significant negative correlation with visual acuity and contrast sensitivity.
- Best-corrected visual acuity (BCVA) and fixation stability (BCEA) improved over a mean follow-up of 7.2 years.
Conclusions:
- Mesopic microperimetry provides a highly reproducible assessment of retinal function in ACHM.
- Key retinal function parameters remain stable in ACHM over the long term.
- Improvements in BCVA and fixation stability may represent part of the natural disease progression.
