Guanine to adenine mutations in patients with lattice corneal dystrophy

Background: Lattice dystrophy is an autosomal-dominantly inherited disease. A mutation of the gene coding for kerato-epitheline has been found in patients with this stromal dystrophy. In codon 124 a Guanine to Adenine mutation of the nucleotide 417 has been described. We looked for this mutation in a family with lattice dystrophy treated in our clinic. Patients and methods: Using primers specific for kerato-epitheline gene, we amplified the cDNA extracted from lymphocytes of two patients suffering from lattice dystrophy. The polymerase chain reaction (PCR) products were subcloned and sequenced. Results: Guanine to Adenine mutations, as published were detected in both of our patients at codon 124. Conclusion: We found the published mutation in both of our patients, indicating that this Guanine to Adenine exchange is pathognomonic for lattice dystrophy.