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When possible, segregation analysis was performed in order to confirm unsolved cases. Each patient\u2019s retinal phenotypic characteristics were determined using focal and full-field ERGs, perimetry, spectral domain optical coherence tomography and fundus autofluorescence. We identified 236 potentially causative variants in 136 patients representing the 58.1% of the total cohort, 43 of which were unpublished. After stratifying the patients according to their clinical suspicion, the diagnostic yield was 62.5% and 53.8% for patients with MD and for those with CD\/CRD, respectively. The mode of inheritance of all cases confirmed by genetic analysis was 70% autosomal recessive, 26% dominant, and 4% X-linked. The main cause (59%) of both MD and CD\/CRD cases was the presence of variants in the <jats:italic>ABCA4<\/jats:italic> gene, followed by variants in <jats:italic>PRPH2<\/jats:italic> (9%) and <jats:italic>BEST1<\/jats:italic> (6%). A careful morpho-functional evaluation of the phenotype, together with genetic counselling, resulted in an acceptable diagnostic yield in a large cohort of Italian patients. 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