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Pedigrees segregating mutations in the families of index patients having RP (A) or LCA (B). Filled symbols are affected, open symbols unaffected. Underneath each family member’s symbol is the RPE65 genotype with small letters indicating the alleles designated at the bottom of each pedigree and “+” indicating the wild-type sequence. Arrows point to index patients. In family 0748, the index patient has LCA and her two parents have RP by history.
