[Chromosome 5q31 linked corneal dystrophies: outline for a new classification].
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).
Munier
F L
FL
Hopital Ophtalmique Jules Gonin, 15 av. de France, 1004 Lausanne.
Schorderet
D F
DF
D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D003315:Cornea / Q000473:pathology* / Q000503:physiopathology; D003317:Corneal Dystrophies, Hereditary / Q000145:classification* / Q000235:genetics*; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D009154:Mutation; D010641:Phenotype