These researchers retrospectively reviewed the medical records of 1500 children with severe visual impairment registered with Blind and Low Vision Educational Network New Zealand. The study aimed to determine the clinical features of optic nerve hypoplasia (ONH) and prevalence within this population. The review identified 94 children (6.3%) with ONH; 91 cases (97%) were bilateral. Of all 94 cases, 52 children (55%) were male and ethnicities were European Caucasian (52%), Māori (40%), Pasifika (6%) and other (2%). Most children with ONH had poor vision; 60% demonstrated ≤6/60 Snellen visual acuity equivalent. The median maternal age was 20.0 years, with 52% aged ≤20 years. The ONH cohort had significantly higher rates of Māori ethnicity (40%) and young maternal age (44% were aged <20 years) compared with the general population (14.6% and 7.4%, respectively; p<0.0001). Half had hypopituitarism and 60% of cases demonstrated neuroimaging abnormalities. Cerebral neuroradiographic abnormalities were associated with a higher rate of developmental delay (OR 9.764; 95% CI, 3.246 to 29.373).
