Figure 1.

Pedigree of Families

(A) Family 1 had a history of adRP. The proband is IV-13.

(B) Family 5. The proband (III-5) was diagnosed with adRP, but sequencing revealed that all tested affected family members were homozygous for p.L140V. This suggests that the proband's mother is heterozygous for the same mutation. Neither the proband's mother nor any of her unaffected siblings have reported or been diagnosed with symptoms of RP, suggesting that in this family RP is recessively inherited. All ten coding exons and the flanking intronic sequences of BEST1 were sequenced in the probands from each family. Family members indicated with ⋄ were sequenced for the respective exon that was mutated in the family proband (exon 5 in family 1 and exon 6 in family 5).