Longitudinal Evaluation of Changes in Retinal Architecture Using Optical Coherence Tomography in Achromatopsia |
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Authors: | Magdalini Triantafylla Eleni Papageorgiou Mervyn G Thomas Rebecca McLean Susanne Kohl Viral Sheth Zhanhan Tu Frank A Proudlock Irene Gottlob |
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Institution: | 1.Ulverscroft Eye Unit, Neuroscience, Psychology and Behaviour, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, University of Leicester, United Kingdom;2.Molecular Genetics Laboratory, Institute for Ophthalmic Research, Department for Ophthalmology, University of Tübingen, Tübingen, Germany;3.Department of Neurology, Cooper University Hospital, Cooper Neurological Institute, Cooper Medical School of Rowan University, Camden, New Jersey, United States |
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Abstract: | PurposeThis prospective study investigates longitudinal changes in retinal structure in patients with achromatopsia (ACHM) using optical coherence tomography (OCT).MethodsSeventeen patients (five adults, 12 children) with genetically confirmed CNGA3- or CNGB3-associated ACHM underwent ocular examination and OCT over a follow-up period of between 2 and 9.33 years (mean = 5.7 years). Foveal tomograms were qualitatively graded and were segmented for quantitative analysis: central macular thickness (CMt), outer nuclear layer thickness (ONLt), and size of the foveal hyporeflective zone (vertical HRZ thickness: HRZt and horizontal HRZ width: HRZw) were measured. Data were analyzed using linear mixed regression models. Both age and visit were included into the models, to explore the possibility that the rate of disease progression depends on patient age.ResultsFifteen of 17 patients (88%) showed longitudinal changes in retinal structure over the follow-up period. The most common patterns of progression was development of ellipsoid zone (EZ) disruption and HRZ. There was a significant increase in HRZt (P = 0.01) and HRZw (P = 0.001) between visits and no significant change in CMt and ONLt. Retinal parameters showed no difference in changes by genetic mutation (CNGA3 (n = 11), CNGB3 (n = 6)).ConclusionsThis study demonstrates clear longitudinal changes in foveal structure mainly in children, but also in adults with ACHM, over a long follow-up period. The longitudinal foveal changes suggest that treatment at an earlier age should be favored. |
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Keywords: | achromatopsia CNGA3 CNGB3 hyporeflective zone optical coherence tomography (OCT) |
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