[Clinical study and genetic 3q28 locus linkage in 2 Swiss families with Kjer dominant optic atrophy (OPA1)]

Klin Monbl Augenheilkd. 1998 May;212(5):301-4.
[Article in French]

Abstract

Methods: We examined 20 patients from 2 unrelated Swiss families to describe their clinical phenotype. In addition, a linkage analysis was performed in an attempt to confirm the reported genetic homogeneity of this condition as well as to refine its genomic localization.

Results: Two point analysis provided a cumulative LOD-score of 3.03 with marker D3S 2305. The absence of recombination precluded further refinement of the disease interval.

Conclusions: Our data confirm the genetic homogeneity and the extreme variability of expression, occasionally mimicking low tension glaucoma.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Chromosome Mapping
  • Chromosomes, Human, Pair 3*
  • Female
  • Genes, Dominant / genetics*
  • Genetic Linkage*
  • Genetic Markers / genetics
  • Humans
  • Male
  • Middle Aged
  • Optic Atrophies, Hereditary / diagnosis
  • Optic Atrophies, Hereditary / genetics*
  • Pedigree
  • Phenotype

Substances

  • Genetic Markers