Corneal endothelial cell abnormalities in X-linked Alport syndrome

Abstract

Background: X-linked Alport syndrome results from the effect of COL4A5 mutations on basement membranes in the kidney, ear and eye. This study investigated individuals with X-linked Alport syndrome for corneal abnormalities. Patients and Methods: Six men and four women from 8 families with genetically-diagnosed X-linked Alport syndrome underwent ophthalmological examination including slit lamp examination and corneal endothelial specular microscopy. Results for corneal microscopy for men and women with X-linked disease were compared separately with the mean values for age- matched normals using the student’s t test. Results: Five of the 6 men had end-stage kidney failure, all 6 had a hearin..