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Related Experiment Video

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Three Dimensional Vestibular Ocular Reflex Testing Using a Six Degrees of Freedom Motion Platform

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Published on: May 23, 2013

Absent optic chiasm presenting with horizontal nystagmus.

Daniel J Salchow¹, Jürgen Kohlhase, Marijean Miller

¹Department of Ophthalmology, Yale University School of Medicine, New Haven, CT 06510, USA.

Journal of Pediatric Ophthalmology and Strabismus

|May 29, 2010

Summary

Isolated absence of the optic chiasm in an infant caused horizontal nystagmus. This finding, along with systemic abnormalities, suggests a potential link to Townes-Brock syndrome.

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Area of Science:

Ophthalmology
Neurology
Genetics

Background:

Optic chiasm abnormalities are rare and can lead to visual pathway defects.
Congenital nystagmus can have various underlying causes, including neurological and structural anomalies.

Observation:

A female infant presented with horizontal nystagmus and a normal ophthalmic examination.
Magnetic resonance imaging revealed an isolated absence of the optic chiasm.
Eye movement recordings confirmed horizontal nystagmus, excluding see-saw nystagmus.

Findings:

Visual evoked potential demonstrated inter-hemispheric asymmetry, consistent with absent crossing chiasmal fibers.
The patient exhibited systemic abnormalities: cleft lip, preauricular skin tags, broad thumbs, and an anteriorly positioned anus.
These clinical features are suggestive of Townes-Brock syndrome.

Implications:

This case highlights the association between optic chiasm absence and congenital horizontal nystagmus.
The findings support the potential for optic nerve pathway malformations in Townes-Brock syndrome.
Further research is warranted to understand the spectrum of visual and systemic manifestations in this syndrome.