[A novel mutation of the OPA1 gene responsible for isolated autosomal dominant optic atrophy in two brothers].

Abstract excerpt

Autosomal dominant optic atrophy, or Kjer disease, is the most frequent form of autosomal dominant optic neuropathy. We report a novel mutation of the OPA1 gene in two brothers with autosomal dominant optic atrophy and describe their clinical features. The two patients, aged 41 and 37, presented...

Topics

• Adult
• Functional Laterality
• GTP Phosphohydrolases
• Genes, Dominant
• Humans
• Male
• Mutation
• Optic Atrophies, Hereditary
• Siblings