To quantify optic nerve hypoplasia/septo-optic-pituitary dysplasia (ONH/SOD) all-cause mortality rate and risk of death in Manitoba, Canada.

A retrospective population-based study with a case–control design was undertaken using the Manitoba Population Research Data Repository. Cases were 124 ONH/SOD patients diagnosed during 1990–2019, matched to 620 unrelated population-based controls on year of birth, sex and area of residence. Both cases and controls were followed until March 31, 2022, or until they moved out of the province or died. Crude mortality rate was estimated. Cox proportional hazards models were used to test for differences in all-cause mortality between cases and controls. Hazard ratios (HR) with 95% confidence intervals (CIs) were estimated.

Six of 124 (4.8%) cases with ONH/SOD and 8 of 620 (1.3%) controls died during the study’s follow-up period. The median (25th–75th percentiles) age of death of ONH/SOD patients was 4.6 (2.7–9.1) years. The median duration of follow-up was 12.0 years for the cases and 11.4 years for the controls. The crude mortality rate (95% CIs) was 3.7 (1.7–8.3) per 1000 person-years in patients with ONH/SOD and 1.0 (0.5–2.1) per 1000 person-years in unrelated matched controls. All-cause mortality was significantly higher in ONH/SOD patients compared to unrelated controls (HR = 3.7, 95% CI = 1.3–10.5).

Patients with ONH/SOD have a higher risk of death compared to unrelated controls. Healthcare professionals should be familiar with the morbidities and comorbidities associated with ONH/SOD and the complications that may lead to their demise, since they can be managed to reduce the mortality risk.