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Vertical nystagmus in infants with congenital ocular abnormalities
Insights
Congenital nystagmus can present with vertical eye movements, particularly in infants with ocular abnormalities like Leber
Area of Science:
- Ophthalmology
- Neurology
- Pediatrics
Background:
- Congenital nystagmus is an involuntary eye movement disorder.
- Vertical nystagmus is less common than horizontal nystagmus.
- Association with ocular abnormalities requires further investigation.
Purpose of the Study:
- To investigate the presentation and association of vertical nystagmus in congenital nystagmus patients.
- To determine the relationship between vertical nystagmus and specific ocular conditions.
- To differentiate vertical nystagmus as a sign of isolated neurological disorders versus ocular abnormalities.
Main Methods:
- Retrospective chart review of 131 congenital nystagmus patients.
- Clinical examination and assessment of nystagmus type and associated ocular conditions.
- Review of neuroimaging findings, including CT scans for cerebellar vermis hypoplasia.
Main Results:
- Nine patients (6.9%) presented with vertical nystagmus and congenital ocular abnormalities.
- Four patients had upbeating nystagmus, three associated with Leber's amaurosis, with resolution to horizontal nystagmus by age one in three cases.
- Five patients with albinism presented with seesaw nystagmus, persisting in three children aged 2.5-5 years.
Conclusions:
- Vertical nystagmus in infancy can be linked to congenital ocular abnormalities, not solely isolated neurological disorders.
- Upbeating nystagmus in Leber's amaurosis may resolve or persist, sometimes associated with cerebellar vermis hypoplasia.
- Seesaw nystagmus in albinism can be intermittent and persistent in young children.
Abstract:
In a series of 131 patients with congenital nystagmus, nine patients initially presented with vertical nystagmus associated with congenital ocular abnormalities. Four patients initially presented with upbeating nystagmus. All four of these patients had Leber's amaurosis. The upbeating nystagmus became horizontally directed in three of the four patients prior to one year of age. The other patient is now eight years old and upbeating nystagmus persists. CT scanning reveals cerebellar vermis hypoplasia in this patient. Five patients with albinism in this series presented initially with seesaw nystagmus. In two cases this resolved to one year of age, but in the other three cases, it is still intermittently seen in children ranging in age from two and a half to five years old. Vertically directed nystagmus may be associated with some ocular abnormalities in infancy and is not always a sign of isolated neurologic disorders.