Clinical and mutational signatures of -associated retinopathies: a multicentre study.

Background: To delineate the clinical and mutational signatures of patients with -associated retinopathies.

Methods: This multicentre retrospective cohort study involved 40 patients with mutations and 40 age-matched and gender-matched inherited retinal diseases (IRDs). The detailed phenotyping and genotyping characteristics and genotype‒phenotype correlations of the patients were analysed.