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Disease Progression in CNGA3 and CNGB3 Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies
Authors:Manca Tekavč     Pompe,Nika Vrabič  ,Marija Volk,Andrej Meglič  ,Martina Jarc-Vidmar,Borut Peterlin,Marko Hawlina,Ana Fakin
Affiliation:1.Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia; (M.T.P.); (N.V.); (A.M.); (M.J.-V.); (M.H.);2.Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia; (M.V.); (B.P.)
Abstract:Achromatopsia has been proposed to be a morphologically predominately stable retinopathy with rare reports of progression of structural changes in the macula. A five-grade system of optical coherence tomography (OCT) features has been used for the classification of structural macular changes. However, their association with age remains questionable. We characterized the Slovenian cohort of 12 patients with pathogenic variants in CNGA3 or CNGB3 who had been followed up with OCT for up to 9 years. Based on observed structural changes in association with age, the following four-stage classification of retinal morphological changes was proposed: (I) preserved inner segment ellipsoid band (Ise), (II) disrupted ISe, (III) ISe loss and (IV) ISe and RPE loss. Data from six previously published studies reporting OCT morphology in CNGA3 and CNGB3 patients were additionally collected, forming the largest CNGA3/CNGB3 cohort to date, comprising 126 patients aged 1–71 years. Multiple regression analysis showed a significant correlation of OCT stage with age (p < 0.001) and no correlation with gene (p > 0.05). The median ages of patients with stages I–IV were 12 years, 23 years, 27 years and 48 years, respectively, and no patient older than 50 years had continuous ISe. Our findings suggest that achromatopsia presents with slowly but steadily progressive structural changes of the macular outer retinal layers. However, whether morphological changes in time follow the proposed four-stage linear pattern needs to be confirmed in a long-term study.
Keywords:CNGA3   CNGB3   achromatopsia   cone-dystrophy   nystagmus   foveal hypoplasia   color vision   autofluorescence   FAF   optical coherence tomography   OCT   electroretinography   ERG   disease stage   progression   degeneration
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