Journal article

Corneal endothelial cell abnormalities in X-linked Alport syndrome

Eleanor Nicklason, Heather Mack, Jacqueline Beltz, Julie Jacob, Mina Farahani, Deb Colville, Judy Savige

Ophthalmic Genetics | TAYLOR & FRANCIS INC | Published : 2020

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 hearing lo..

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