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Bilateral optic nerve atrophy in myotonic dystrophy.
J Gamez1, D Montane, L Martorell
1Servicio de Neurologia, Hospital Gral. Vall d'Hebron, Passeig Vall d'Hebron, 119-125, 08035 Barcelona, Spain. 12784jgc@comb.es
American Journal of Ophthalmology
|March 10, 2001
Summary
Bilateral optic atrophy, a vision impairment, was observed in a patient with myotonic dystrophy. This case highlights optic atrophy as a potential complication of this genetic disorder.
Area of Science:
- Ophthalmology
- Genetics
- Neurology
Background:
- Myotonic dystrophy is an autosomal dominant genetic disorder caused by a CTG repeat expansion in the DMPK gene.
- It affects multiple systems, but ocular manifestations are not always emphasized.
Observation:
- A 56-year-old woman with myotonic dystrophy presented with decreased vision.
- Clinical examination revealed bilateral optic disc pallor, abnormal visual fields, visual evoked potentials, and electroretinograms.
Findings:
- Genetic studies confirmed a pathological CTG expansion in the myotonic dystrophy gene.
- The patient exhibited bilateral optic atrophy, with vision loss ranging from light perception to 20/25.
Implications:
- Optic atrophy should be recognized as a potential ocular complication in patients with myotonic dystrophy.
- This case underscores the importance of comprehensive ophthalmological evaluation in individuals with myotonic dystrophy.