In vivo adaptive optics retinal imaging reveals rod-mediated cone photoreceptor disorganization in RHO-associated retinitis pigmentosa

Abstract Pathogenic variants in the rhodopsin ( RHO ) gene are the most common cause of autosomal dominant retinitis pigmentosa leading to photoreceptor degeneration. Quantitative imaging using adaptive optics (AO) revealed irregularities in cone organization, even in relatively well-preserved retinal locations. At the leading disease front, rod density was disrupted to a greater extent than cones. Repeated longitudinal measurements demonstrate the possibility of using cone-based metrics for treatment trials to preserve photoreceptor structure.