Infantile nystagmus without overt eye abnormality: Early features and neuro-ophthalmological diagnosis

Dev Med Child Neurol. 2022 Dec;64(12):1532-1538. doi: 10.1111/dmcn.15284. Epub 2022 May 29.


Aim: To analyse the neuro-ophthalmological data of children referred for further work-up of infantile nystagmus where ophthalmological evaluation had not achieved a diagnosis.

Method: We retrospectively reviewed medical records of patients presenting with infantile nystagmus at our institution between 2007 and 2019. Inclusion criteria were onset before 6 months of age, availability of complete ophthalmic examination, visual electrophysiological tests, and neurological examination. Children with a previous definite ophthalmological diagnosis at onset and those with uncertain nystagmus onset age were not recruited.

Results: Out of 142 infants (mean age at nystagmus onset 3.6 mo, SD 1.7, range 0-6 mo; 56 females, 86 males), 23% had neurological nystagmus, 7% mixed neurological and sensory nystagmus, 48% sensory defect, and 22% idiopathic infantile nystagmus. The neurological diagnoses were inborn errors of metabolism, white matter genetic disorders, and brain malformations. The prevalent diagnosis in the sensory defect subgroup was retinal dystrophy.

Interpretation: Infantile nystagmus without diagnostic ocular findings may be due to neurological, retinal, and optic nerve disorders or be a benign idiopathic condition. In infants with and without neurological abnormalities, the search for a sensory defect should include visual electrophysiology performed early in the diagnostic pathway.

What this paper adds: Infantile nystagmus without diagnostic ophthalmological signs has an underlying neurological cause in 30% of cases. Neurological diagnoses include congenital brain malformations, and metabolic and genetic disorders. Sensory defects are part of systemic neurological disorders in 23% of infants. Electrophysiology is useful when ophthalmological examination is uninformative.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Eye Abnormalities* / complications
  • Eye Abnormalities* / diagnosis
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Nystagmus, Congenital* / etiology
  • Nystagmus, Congenital* / genetics
  • Nystagmus, Pathologic* / complications
  • Nystagmus, Pathologic* / diagnosis
  • Retina
  • Retrospective Studies