Pedigree of the investigated ADOA family and segregation analysis of the OPA1 exon 7-9 duplication. (A) Updated pedigree of the family. The gray area indicates the original pedigree as described by W. Jaeger 1954. Only persons of whom DNA samples were available are indexed. (B) Segregation analysis applying a PCR assay specific for the OPA1 exon 7-9 duplication. A fragment covering exon 19 sequences was co-amplified as internal control. Subjects are numbered according to the pedigree. Ntc - non template control.