ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance

Figure 2

Pedigrees of three Japanese families with angioid streaks (AS). Two novel ABCC6 variants (p.H647Y and p.S1125F) are found in families 7 and 10. Families 3 and 10 exhibit a pseudodominant inheritance pattern. The identified ABCC6 variants cosegregated with the patients with AS.