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

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.