CRB1 and Menkes disease: Genotype-phenotype correlations were assessed based on CRB1 isoform involvement and protein domain localization of variants, supported by in silico structural modeling.<h4>Main outcome measures</h4>Associations between <i>CRB1</i> variant location, isoform involvement, and clinical phenotypes including Leber congenital amaurosis/early onset severe retinal dystrophy (LCA/EOSRD), retinitis pigmentosa (RP), cone-rod dystrophy, and macular dystrophy (MD).<h4>Results</h4>All patients had variants affecting CRB1-A, with none exclusively affecting CRB1-B.