Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of mitochondrial encephalomyopathy (Kearns-Sayre syndrome) with corneal endothelial abnormality is reported. A 22-year-old woman had retinitis pigmentosa, external ophthalmoplegia, complete heart block, ataxia, muscle weakness, dementia, sensorineural hearing loss, and was of short stature. Renal dysfunction, diabetes mellitus, and amenorrhea were also observed. Biopsy revealed decreased cytochrome c oxidase (complex IV) activity in muscle mitochondria. The corneal endothelium examined by specular microscope showed decreased cell density, severe polymegathism, and pleomorphism in both eyes. To our knowledge, this is the first report concerning primary corneal endothelial abnormality in a case with mitochondrial encephalomyopathy. The corneal endothelium is one of the tissues that could be affected by the enzyme deficiency present in this disease.
Cornea 1989 Sep
PMID:Corneal endothelium in a case of mitochondrial encephalomyopathy (Kearns-Sayre syndrome). 274 82

The authors describe the clinical, molecular genetic, and pathologic findings of a patient with corneal decompensation associated with the mitochondrial ophthalmoplegia plus (Kearns-Sayre) syndrome. Ultrastructurally abnormal mitochondria were observed and possibly implicate this organelle in the pathogenesis of corneal edema.
Cornea 1994 May
PMID:Corneal decompensation in mitochondrial ophthalmoplegia plus (Kearns-Sayre) syndrome. A clinicopathologic case report. 803 80