Should Patients with Kearns -Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat,Commonly Associated with Fuchs Endothelial Corneal Dystrophy

Abstrakt

The aim of this study was to describe the ocular phenotype in a case with Kearns-Sayre syndrome spectrum and to determine if corneal endothelial cell dysfunction could be attributed to other know distinct genetic causes.

Klíčová slova

• Kearns-Sayre syndrome
• corneal endothelium
• CTG18.1
• TCF4
• corneal dystrophy
• endothelial failure
• exome sequencing