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A prospective longitudinal study of retinal structure and function in achromatopsia
Jonathan Aboshiha1, Adam M Dubis1, Jill Cowing2
1UCL Institute of Ophthalmology, University College London, London, United Kingdom Moorfields Eye Hospital, London, United Kingdom.
Investigative Ophthalmology & Visual Science
|August 9, 2014
Summary
A long-term study of achromatopsia (ACHM) found that retinal structure and function change very slowly, if at all, in most patients. This slow progression is not linked to age or specific genetic mutations, offering insights for gene therapy trials.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- Achromatopsia (ACHM) is a rare inherited retinal disorder.
- Previous studies on ACHM progression have yielded conflicting results.
- Longitudinal data are crucial for understanding disease course and planning interventions.
Purpose of the Study:
- To longitudinally characterize retinal structure and function in achromatopsia (ACHM).
- To prepare for upcoming clinical gene therapy trials in ACHM patients.
Main Methods:
- Serial assessments of 38 molecularly confirmed ACHM subjects over a mean follow-up of 19.5 months.
- Utilized spectral domain optical coherence tomography (SD-OCT), microperimetry, and fundus autofluorescence (FAF).
- Analyzed foveal structure, retinal thickness (FTRT, ONL), visual acuity, contrast sensitivity, retinal sensitivity, and fixation stability.
Main Results:
- Minimal structural changes observed on SD-OCT (2/37 subjects).
- No significant longitudinal changes in FTRT, ONL thickness, visual acuity, or other functional measures.
- Three distinct FAF patterns identified; one showed a slow increase in the area of reduced FAF (0.03 mm²/19.3 months).
Conclusions:
- Achromatopsia (ACHM) progression is slow and subtle in most patients, not correlating with age or genotype.
- This study provides the most extensive longitudinal data on ACHM to date.
- Fundus autofluorescence (FAF) patterns are highly variable and may offer insights into disease heterogeneity.
