title: Corneal dystrophies and keratoconus.
abstract: This year's reports have given us a better understanding of several dystrophies as well as improvements in diagnosis and treatment. Eight corneal dystrophies have now been mapped to specific chromosomes and of these lattice, granular, Avellino, and Reis Bückler's dystrophies map to the same region of chromosome 5q, raising the question whether they are the result of mutations in separate genes or of mutations within alleles of a single gene. Phototherapeutic keratoplasty appears to offer an advantage in the initial treatment of several dystrophies whose symptoms arise from superficial corneal change. Some success has been reported in reducing the degree of hyperopic shift that accompanies deeper ablations. Further support for the genetic basis of keratoconus comes from a study in monozygotic twins and from improvements in quantitative videokeratographic indices, which have also improved our ability to distinguish keratoconus from other topographic abnormalities of the cornea. A new hypothesis for the mechanism of keratoconus proposes that an increased expression of interleukin-1 receptors, acting through a paracrine pathway, may disturb keratocyte activity and turnover, leading to a loss of stromal mass.
authors.affiliation: Nuffield Laboratory of Ophthalmology Department of Ophthalmology, University of Oxford.
authors.forename: A J
authors.initials: AJ
authors.lastname: Bron
authors.forename: Y S
authors.initials: YS
authors.lastname: Rabinowitz
mesh_terms: D000818:Animals; D003317:Corneal Dystrophies, Hereditary / Q000209:etiology* / Q000473:pathology / Q000601:surgery; D016039:Corneal Transplantation / Q000379:methods; D006801:Humans; D007640:Keratoconus / Q000209:etiology* / Q000473:pathology / Q000601:surgery