[Chromosome 5q31 linked corneal dystrophies: outline for a new classification]

Klin Monbl Augenheilkd. 2001 Mar;218(3):136-9. doi: 10.1055/s-2001-13072.
[Article in German]

Abstract

The following article is an attempt to summarise the recent genetic findings in chromosome 5q31 corneal dystrophies. It also shows the remarkable correlation between genotype and phenotype characterising them. Basically, 6 main heterozygote mutations are responsible for 6 different phenotypes, corresponding to the following 4 histologic forms of corneal deposits: a) amyloid or lattice, b) granular, c) amyloid or lattice and granular, d) non-amyloid and non-granular (fibrous).

Publication types

  • English Abstract
  • Review

MeSH terms

  • Chromosomes, Human, Pair 5 / genetics*
  • Cornea / pathology*
  • Cornea / physiopathology
  • Corneal Dystrophies, Hereditary / classification*
  • Corneal Dystrophies, Hereditary / genetics*
  • Genetic Linkage
  • Genotype
  • Humans
  • Mutation*
  • Phenotype