Figure 2

Detection of known mutations by NGS in 254 retinal genes. The index patient 19 of family 16 with adRP revealed the p.T494M mutations in PRPF3, which co-segregates with the phenotype. Two family members never clinically investigated from the last generation (984 and 1167 carrying a question mark) were reported to be not affected but carried the mutation. They may develop the phenotype at a later stage. In addition variability of the phenotype of this mutation was documented [35]. Two patients, 128 and 943 of family 100 with arRP from Jewish origin revealed the known EYS mutation p.N137VfsX24, which was found in all screened affected family members. The index patient 893 of family 574 showed the previously described NR2E3 p.G56R mutation, which co-segregated with the phenotype.