Morbidities and comorbidities associated with optic nerve hypoplasia and septo-optic-pituitary dysplasia

Optic nerve hypoplasia (ONH) and septo-optic-pituitary dysplasia (SOD) are disorders in which the eye nerves are small. In SOD, other brain abnormalities are also present. These disorders are the leading causes of poor vision in children in high-income countries. There is no cure for the impaired vision. There are no studies quantifying the frequency of the medical conditions associated with ONH and SOD cases compared to people without ONH or SOD, despite their importance for planning healthcare and services delivery. Our study bridges that gap by comparing the frequency of the various medical conditions in 124 cases with ONH and SOD to the frequency of the same medical conditions in 620 unrelated cases and 76 siblings of the cases with ONH and SOD.

We used population-based health databases to obtain the relevant medical information. These databases are housed at the Manitoba Centre for Health Policy at the University of Manitoba, Canada. We found that visual impairment and visual impairment associated with deficiency in some of the hormones produced in the brain (hypopituitarism) were the main medical conditions in patients with ONH and SOD, respectively. In addition, developmental delay or intellectual disability, autism spectrum disorder, epilepsy, cerebral palsy, and mood or anxiety disorders were important conditions that were more common in cases with ONH and SOD compared to people without ONH and SOD. We also found that cases with ONH and hypopituitarism were at the highest risk of being affected by the aforementioned medical conditions and that these medical conditions may accrue with age.