Aims To characterise longitudinal progressive retinal changes in achromatopsia.
Methods Ultrahigh-resolution spectral optical coherence tomography (Copernicus, 3 μm axial resolution) was used to obtain tomograms of the fovea from five children and three adults with achromatopsia. Each patient was scanned twice with a mean follow-up time of 16 months. Progressive changes in reflectivity at the inner segment/outer segment (IS/OS) junction, the central macular and outer nuclear layer thickness were analysed.
Results Younger patients (<10 years; patient 1–5) showed progressive morphological changes at the IS/OS junction between visits 1 and 2. However, older patients (>40 years; patients 6–8) did not have any changes in the retinal morphology between visits 1 and 2. In patients 1 and 2, IS/OS discontinuities (visit 1) developed into a hyper-reflective zone confined to the fovea (visit 2). In patient 3, the hyper-reflective zone (visit 1) progressed to form an IS/OS disruption and early formation of a small hypo-reflective zone (visit 2). Patients 4 and 5 had a hypo-reflective zone (visit 1) which subsequently increased in size (visit 2). There was a decrease in central macular and outer nuclear layer thickness between visits 1 and 2 in children.
Conclusions For the first time, we show progressive longitudinal changes in retinal morphology in achromatopsia. Early changes include subtle IS/OS reflectivity alterations. The dynamic retinal changes in younger patients provide evidence that it represents a progressive disorder, and implementation of gene therapy during the early stages of the disease may provide best prognosis.
- cone photoreceptors
- optical coherence tomography
- foveal hypoplasia
- optic nerve
- visual pathway
- visual pathway
- anterior chamber
- diagnostic tests/investigation
- field of vision
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Funding The study was supported by the National Eye Research Centre (Grant No: RM61G0124 and RM61G0216), Ulverscroft foundation and the Deutsche Forschungsgemeinschaft (Grant No: DFG KO 2176/1-2).
Competing interests None.
Ethics approval Ethics approval was provided by University Hospitals of Leicester.
Provenance and peer review Not commissioned; externally peer reviewed.