Figure 1. Lack of complete cosegregation of E50K with glaucoma in the pedigree of a Chilean family

The arrow indicates the proband (Case 1). Filled symbols are affected individuals with NTG, open symbols are individuals who are unaffected or reported to be unaffected. Symbols with a cross indicate individuals who are glaucoma-suspect, symbols with a center dot indicate glaucoma-affected individuals according to family report, and partially filled symbols denote individuals affected with POAG. Diagonal lines mark deceased individuals. Individuals denoted with ++ have E50 alleles on both chromosomes and ones with M+ carry the E50K heterozygous change. Members of generation four are young enough that they are not expected to be affected yet.