Two brothers with bilateral optic neuropathy

Surv Ophthalmol. 1995 Mar-Apr;39(5):417-24. doi: 10.1016/s0039-6257(05)80098-0.

Abstract

A young man developed bilateral, consecutive, optic neuropathy. His brother had had a similar problem and recovered after one year. Mitochondrial DNA analysis showed that both had the 14484 mutation associated with Leber's hereditary optic neuropathy.

Publication types

  • Case Reports
  • Clinical Conference

MeSH terms

  • Adolescent
  • DNA / analysis
  • DNA, Mitochondrial / genetics
  • Diagnosis, Differential
  • Fundus Oculi
  • Humans
  • Male
  • Optic Atrophies, Hereditary / diagnosis*
  • Optic Atrophies, Hereditary / genetics
  • Optic Atrophies, Hereditary / physiopathology
  • Point Mutation
  • Vision Disorders / diagnosis
  • Vision Disorders / genetics
  • Vision Disorders / physiopathology
  • Vision, Ocular / physiology
  • Visual Acuity
  • Visual Fields

Substances

  • DNA, Mitochondrial
  • DNA