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Internuclear ophthalmoplegia in Fabry's disease
Annals of Ophthalmology
|August 1, 1981
Summary
This study reports the first case of internuclear ophthalmoplegia in a 16-year-old with Fabry disease. The condition, causing double vision, resolved spontaneously, highlighting a rare vascular complication in young patients.
Area of Science:
- Neurology
- Ophthalmology
- Genetics
Background:
- Fabry disease is a rare genetic disorder affecting multiple organs.
- Vascular complications, including stroke, can occur in Fabry disease.
- Internuclear ophthalmoplegia is a specific type of eye movement disorder.
Observation:
- A 16-year-old male with diagnosed Fabry disease presented with sudden onset of diplopia (double vision).
- Neurological examination revealed a right internuclear ophthalmoplegia.
- Associated signs included abnormal optokinetic phenomena and ocular dysmetria.
Findings:
- This is the first documented case of internuclear ophthalmoplegia in a patient with Fabry disease.
- The patient's diplopia resolved spontaneously within six weeks.
- This case represents one of the youngest individuals experiencing unilateral internuclear ophthalmoplegia, likely due to vascular occlusive disease.
Implications:
- This case expands the known spectrum of neurological manifestations in Fabry disease.
- It underscores the potential for early-onset vascular complications in young Fabry disease patients.
- Highlights the importance of considering rare vascular events in the differential diagnosis of diplopia in this population.