Macular corneal dystrophy in Iceland : A clinical, genealogic and immunohistochemical study of 28 patients.
The frequency of different types of macular corneal dystrophy (MCD) was determined in Iceland where MCD accounts for one third of every penetrating keratoplasty.
The authors determined the serum levels of antigenic keratan sulfate (aKS) in 27 patients with MCD and 53 unaffected family members by an enzyme-linked immunosorbent assay that uses an anti-KS monoclonal antibody (5-D-4).
The authors also stained sections from 37 corneal buttons (including 2 regrafts) from 23 patients with MCD by the avidin-biotin complex method using the same anti-KS monoclonal antibody.
Based on the serum analyses, 22 patients had MCD type 1 and 5 had MCD type II.
The corneas from patients without detectable KS in the serum lacked immunohistochemical reactivity to the anti-KS antibody.
Every MCD cornea examined from individuals with normal serum KS levels showed KS reactivity.
All 53 unaffected siblings and parents carrying the recessive gene had normal serum KS levels.
Macular corneal dystrophy types I (78.6%) and II (21.4%) both occur in Iceland.
Members of affected sibships had only one of these types, not both.
Nine patients with MCD type I and four persons with MCD type II belonged to a large pedigree in which individuals have been traced as far back as the beginning of the 16th century. (...)
Mots-clés Pascal : Dystrophie cornéenne, Macula, Islande, Iles Atlantiques, Immunohistochimie, Symptomatologie, Généalogie, Homme, Oeil pathologie, Kératopathie, Anatomopathologie
Mots-clés Pascal anglais : Corneal dystrophy, Macula, Iceland, Atlantic Ocean Islands, Immunohistochemistry, Symptomatology, Genealogy, Human, Eye disease, Keratopathy, Pathology
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 96-0351804
Code Inist : 002B09E. Création : 10/04/1997.