Children with optic nerve hypoplasia face a high risk of neurodevelopmental disorders

Acta Paediatr. 2018 Mar;107(3):484-489. doi: 10.1111/apa.14163. Epub 2017 Dec 19.


Aim: Optic nerve hypoplasia (ONH) is a congenital ocular malformation that has been associated with neurodevelopmental disorders, but the prevalence in unilateral disease and less severe visual impairment is unknown. We studied intellectual disability and autism spectrum disorders (ASDs) in patients with ONH.

Methods: This was a population-based cross-sectional cohort study of 65 patients (33 female) with ONH below 20 years of age, living in Stockholm in December 2009, with data analysed in January 2016. Of these 35 were bilateral and 30 were unilateral. Neurodevelopmental disorders were diagnosed or confirmed by neurological assessments, the Five to Fifteen parent questionnaire and reviewing previous neuropsychological investigations or conducting neuropsychological tests.

Results: Bilateral ONH patients had lower mean full scale intelligence quotient scores than unilateral patients (84.4 and 99.4, respectively, p = 0.049). We assessed intellectual disability in 55 eligible patients, and it was more common in patients with bilateral ONH (18 of 32, 56%) than unilateral ONH (two of 23, 9%, p < 0.001). ASDs were diagnosed in seven of 42 (17%) patients.

Conclusion: Children with bilateral ONH had a high risk of neurodevelopmental disorders, especially intellectual disability. The risk was lower in unilateral ONH, but the levels of neurodevelopmental disorders warrant screening of both groups.

Keywords: Autism; Intellectual disability; Neurodevelopmental disorder; Optic nerve hypoplasia; Visual impairment.

MeSH terms

  • Adolescent
  • Age Distribution
  • Autism Spectrum Disorder / epidemiology*
  • Autism Spectrum Disorder / etiology*
  • Autism Spectrum Disorder / physiopathology
  • Child
  • Child, Preschool
  • Cross-Sectional Studies
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / epidemiology
  • Intellectual Disability / etiology
  • Intellectual Disability / physiopathology
  • Male
  • Neurodevelopmental Disorders / epidemiology*
  • Neurodevelopmental Disorders / etiology*
  • Neurodevelopmental Disorders / physiopathology
  • Neuropsychological Tests
  • Optic Nerve Diseases / complications
  • Optic Nerve Diseases / congenital*
  • Optic Nerve Diseases / diagnosis
  • Prevalence
  • Prognosis
  • Retrospective Studies
  • Risk Assessment
  • Severity of Illness Index
  • Sex Distribution
  • Sweden / epidemiology
  • Urban Population
  • Young Adult

Supplementary concepts

  • Optic Nerve Hypoplasia, Bilateral