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Optic atrophy and the Wyburn-Mason syndrome
Journal of Clinical Neuro-Ophthalmology
|June 1, 1984
Summary
A 14-year-old girl experienced vision loss due to an orbital arteriovenous malformation. This case suggests a Wyburn-Mason syndrome variant, characterized by abnormal blood vessel development in the orbit and midbrain.
Area of Science:
- Ophthalmology
- Neurology
- Vascular Surgery
Background:
- Wyburn-Mason syndrome is a rare congenital arteriovenous malformation affecting the brain, retina, and skin.
- Orbital and parachiasmal arteriovenous malformations can lead to significant visual impairment.
Observation:
- A 14-year-old female presented with progressive vision impairment and optic atrophy in her left eye.
- Imaging revealed an orbital and parachiasmal arteriovenous malformation without retinal involvement.
Findings:
- The patient's condition, despite lacking retinal arteriovenous malformation, was consistent with a variant of Wyburn-Mason syndrome.
- This vascular dysgenesis involved focal arteriovenous communications without intervening capillaries in the orbit and midbrain.
Implications:
- This case expands the spectrum of Wyburn-Mason syndrome presentations.
- Early diagnosis and management of such vascular malformations are crucial for preserving vision and neurological function.