Mitochondrial mutations in neuro-ophthalmological diseases. A review.

Abstract excerpt

Mutations in the genetic material of mitochondria have been described in patients with a range of neuro-ophthalmological and neuromuscular disorders. Many cases of Leber's hereditary optic neuropathy are caused by a single point mutation, for example, and Kearns-Sayre syndrome, chronic external ophthalmoplegia, and other mitochondrial cytopathies are frequently associated with large-scale deletions of...

Topics

• Chromosome Deletion
• DNA, Mitochondrial
• Eye Diseases
• Humans
• Kearns-Sayre Syndrome
• Mutation
• Nervous System Diseases
• Ophthalmoplegia
• Optic Atrophies, Hereditary