Genetic Factors and Characteristics on Spectral-Domain Optical Coherence Tomography Are Associated to Choroidal Thickness in ABCA4-Related Retinopathy Factors of Choroidal Thickness in ABCA4 Retinopathy

Abstract Purpose: To investigate the possible correlation factors of choroidal thickness in ABCA4-related retinopathy. Methods: A total of 66 patients were included in the cohort. It is a retrospective, cross-sectional laboratory investigation. The patients were tested using whole exon sequencing (WES) and ophthalmic exams, including slip lamp exams, best corrected visual acuity (BCVA), spectral-domain optical coherence tomography (SD-OCT), fundus photo (FP), and fundus autofluorescence (FAF). Results: Besides demographic characteristics (age, onset age, duration), we selected genetic factors and ocular characteristics on SD-OCT as the candidates related to choroidal thickness (CT). Mutation type (inframe mutation or premature termination codon), epiretinal membrane (ERM), RPE- Bruch’s membrane (BM) integrity and macular curvature changes were identified as related factors to choroidal thickness in ABCA4 -related retinopathy after the adjustment of Logistic LASSO regression . Conclusions: Mutation type, ERM, RPE-BM integrity and macular curvature changes are related factors to choroidal thinning. These findings could provide us a further understanding for the pathological process and clinical features of ABCA4 mutation.