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Table S1. Regions of homozygosity identified in individual RD1 in family W


Figure S1. Segregation and haplotype analysis of p.Arg45Trp positive families. Segregation of the RP1L1 heterozygous missense variant c.133C>T (p.Arg45Trp), highlighted in bold, was analyzed in family members of OD13 (family S), OD20 (family T), OD24 (family U) and OD27 (family V). Nine of 13 unaffected individuals investigated harbor the allele in the heterozygous state. Haplotype analysis was performed to determine if individuals from the different families harboring the p.Arg45Trp allele shared the same chromosomal backgrounds and to explore the possibility of an RP1L1variant modulating disease when in trans with the p.Arg45Trp allele. One unaffected individual in families U (III:9) harbouredidentical haplogenotypes with their respective affected sibling OD24 (III:6 in family U), around the RP1L1 locus excluding a recessive model in this family. Polymorphic markers span chr8:6,416,676 bp (D8S277) to chr8: 12,842,458 bp (D8S552).

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