Cone contrast sensitivity testing in X-linked retinal diseases: Insights into genotype, sex and disease severity

Abstract

Purpose: To evaluate cone contrast sensitivity (CS) in X-linked inherited retinal diseases (IRDs), specifically RPGR-associated retinitis pigmentosa (RPGR) and choroideremia (CHM) using the Konan ColorDx Cone Contrast Threshold (CCT) test, and to explore associations with clinical measures of visual function. Methods: Eighty-five participants were assessed, including affected males, female carriers and healthy controls. Clinical assessments included best-corrected visual acuity (BCVA), low-luminance visual acuity (LLVA), fundus-tracked perimetry and fundus autofluorescence (FAF) imaging. Linear mixed models were used to evaluate cone CS differences by diagnosis and sex, adjusting for age and..