Familial optic atrophy with sex-influenced severity. A new variety of autosomal-dominant optic atrophy?

Ophthalmologica. 1986;192(1):28-33. doi: 10.1159/000309608.

Abstract

A family is described with 20 members in three successive generations affected by optic atrophy without other ocular or extraocular manifestations. The anomaly was transmitted as an autosomal-dominant character. There was a clearly bimodal distribution of severity: 4 male patients complained of severe impairment of vision since childhood while 16 other subjects (7 males and 9 females) were completely asymptomatic. This family could be an example of a new variety of autosomal dominant optic atrophy characterized by sex-influenced severity.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Color Perception
  • Fluorescein Angiography
  • Genes, Dominant*
  • Genetic Carrier Screening
  • Humans
  • Male
  • Optic Atrophy / genetics*
  • Pedigree
  • Sex Factors
  • Visual Fields