Objective: The objective of this study was to assess the structural-functional relationship in choroideremia (CHM) patients using optical coherence tomography (OCT) and autofluorescence (AF) images.

Methods: In this study, 53 eyes of 28 CHM patients were included. Demographic, ocular and clinical fundus features were recorded. Fundus AF and OCT images were analysed. Patients were classified into two groups based on AF features: group 1, CHM patients where the foveal island was present and group 2, CHM patients where the foveal island was absent. Inner and outer retinal layer thicknesses, retinal pigment epithelium (RPE) and subfoveal choroidal thickness (SFCT) were measured and correlated with visual acuity (VA).

Results: There were 26 eyes in group 1 and 27 eyes in group 2. Mean age in groups 1 and 2 were 51.7 ± 13.4 and 63.6 ± 11.6 years, respectively. Age (p = 0.001) and VA (p < 0.001) between the two groups were significantly different. The retinal and SFCT showed significant differences that were analysed for each eye between the two groups. Reduced VA was noted with increasing age (r = 0.483; p ≤ 0.001), thin total retina (r = -0.378; p = 0.005), inner (r = -0.512; p < 0.001), outer (r = -0.59; p < 0.001) retinal thicknesses and thin RPE (r = -0.653; p < 0.001). Multivariate analysis showed RPE thickness (p = 0.001) as the most important index that affected VA.

Conclusion: RPE thinning contributes to poor VA in patients with advanced CHM. Further studies are needed to evaluate the role of retinal thickness and SFCT and its relationship to VA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8602616PMC
http://dx.doi.org/10.1038/s41433-021-01441-0DOI Listing

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