Fig. 5

Estimated cumulative incidence of various features of RS: a All patients developed bone marrow failure (BMF) by the age of 6 years. Time of diagnosis was available in 16 patients, with BMF occurring most frequently in the second year of life (median age 1.5 years; 95% CI 1.4–1.6). b Accordingly, retinopathy was present in all cases (time of diagnosis was available in 15 patients). Most children developed retinopathy between the ages of 6 and 18 months of life (median age 1.1 years; 95% CI 0.7–1.5). c Only three patients (unknown in two) experienced seizures. These developed exclusively during early childhood, resulting in an estimated cumulative incidence rate of 20% (SD 10.7)