SCHNYDER'S CORNEAL DYSTROPHY: A GENETIC ANALYSIS IN HUMANS AND CANINES

Abstract

Schnyder's corneal dystrophy (SCD) is a rare autosomal dominant disease with abnormal deposits of cholesterol and phospholipids in the cornea. The phenotype is a progressive bilateral corneal opacification with a gradual decrease in visual clarity. Only two treatment options are available. Consequently, an animal model is of interest. This study presents analysis of ten new SCD families. Five have novel genetic alterations A97T, D112N, V122E, V122G, and L188H while the others all have the putative hotspot mutation N102S. The mutated amino acids are observed to be highly conserved across species, including canines. Analysis of four canines resulted in finding three single nucleotide polymorphisms though none are thought to cause SCD in the canine. Previous SCD analysis demonstrates families who have the disease but have no alterations within the protein coding regions of the UBIAD1 gene; it is thought that the canine may follow the same suit as these families.