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[Ocular symptoms in mitochondrial myopathy]
H Ninomiya1, A Kanai, M Hayakawa
1Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan.
Nippon Ganka Gakkai Zasshi
|May 1, 1990
Summary
Mitochondrial myopathies can affect corneal endothelial cells, causing larger cell size and increased size variation. These changes, alongside mitochondrial abnormalities, suggest potential ocular complications in these genetic disorders.
Area of Science:
- Ophthalmology
- Genetics
- Cell Biology
Background:
- Mitochondrial myopathies are a group of genetic disorders affecting muscle function.
- Ocular manifestations can occur in mitochondrial myopathies, but corneal involvement is not well-characterized.
Observation:
- Specular microscopy revealed larger mean endothelial cell size in 3/10 eyes and increased cell size variance in all 10 eyes compared to controls.
- Electron microscopy of one autopsy case showed corneal mitochondrial abnormalities and inclusions within stromal keratocytes.
Findings:
- Corneal endothelial cells in mitochondrial myopathy patients exhibit statistically significant alterations in size and size distribution.
- Mitochondrial abnormalities are present within corneal tissues, specifically in stromal keratocytes.
Implications:
- These findings indicate that corneal endothelial cells are a potential target in mitochondrial myopathies.
- Further research is warranted to understand the clinical significance and progression of these corneal changes in mitochondrial myopathies.