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Diagnosing children presenting with asymmetric pendular nystagmus
F S Shaw1, A Kriss, I Russel-Eggitt
1Department of Ophthalmology, Great Ormond Street Hospital for Children, London, UK. fatima@gordonreid.net
Insights
Horizontal asymmetric nystagmus in children can indicate serious intracranial issues or retinal conditions. Early VEP/ERG testing is crucial for accurate diagnosis, differentiating between neurological and visual causes.
Area of Science:
- Ophthalmology
- Neurology
- Pediatrics
Background:
- Horizontal asymmetric nystagmus is uncommon in congenital nystagmus.
- It can be associated with intracranial lesions, monocular vision loss, or spasmus nutans.
- Spasmus nutans is diagnosed retrospectively after ruling out other pathologies.
Purpose of the Study:
- To investigate the causes of horizontal asymmetric nystagmus in children.
- To evaluate the diagnostic utility of neuroimaging and electrophysiological tests.
- To highlight the differential diagnosis of asymmetric nystagmus in pediatric patients.
Main Methods:
- Retrospective review of clinical records of 277 children with congenital nystagmus over 8 years.
- Analysis of cases with asymmetric nystagmus (24/277).
- Correlation of clinical findings with neuroimaging and visual evoked potentials (VEPs) / electroretinography (ERG).
Main Results:
- Asymmetric nystagmus was found in 24 children.
- Seven cases were diagnosed with spasmus nutans.
- Twelve cases had intracranial pathology with abnormal VEPs.
- Five cases had congenital sensory defect nystagmus (albinism, cone dysfunction, cone-rod dystrophy).
Conclusions:
- Neuroimaging is essential for asymmetric nystagmus, but retinal diseases and albinism are also important considerations.
- Non-invasive VEP/ERG testing is critical for diagnosing all forms of nystagmus.
- Asymmetric nystagmus warrants a thorough ophthalmological and neurological evaluation.
Abstract:
Horizontal asymmetric nystagmus usually occurs in one of three situations: secondary to an intracranial lesion, with monocular visual loss, or as part of the triad that constitutes the diagnosis of spasmus nutans (asymmetric nystagmus, abnormal head posture, head shake). Clinical records of 277 children, presenting with congenital nystagmus over an 8-year period were reviewed. Nystagmus was asymmetric in 24 of 277 cases. Seven of these patients were diagnosed with spasmus nutans. This is a rare condition that is only diagnosed retrospectively based on the absence of any abnormal neuroimaging or electrophysiological findings. Twelve of 24 patients had intracranial pathology and all had abnormal visual evoked potentials (VEPs). Five patients were diagnosed with congenital sensory defect nystagmus including one with albinism, three with congenital cone dysfunction, and one with cone-rod dystrophy. This paper stresses that although neuroimaging is necessary in all patients presenting with asymmetric nystagmus, such nystagmus can also occur with retinal disease or albinism and indicates the importance of non-invasive VEP/ERG testing in all forms of nystagmus.