Abstract

P 156

Delayed epithelial healing after keratoplasty in molecular genetic evidenced lattice corneal dystrophy

Anne Rautenberg, Elke Vetter, Gernot I. W. Duncker, Claudia Grünauer-Kloevekorn
Universitärsklinik und Poliklinik für Augenheilkunde, Martin-Luther-Universität Halle-Wittenberg, Halle/Saale

Objective
Studies show that in patients with lattice dystrophy, delayed epithelial healing after penetrating keratoplasty can be anticipated. In these cases molecular genetic investigations were not performed. We report on the time necessary for complete epithelial healing after penetrating keratoplasty in one patient mutations in exon 4 of the BIGH3 gene were as cause for lattice corneal dystrophy detected.
Methods
In affected patient with lattice dystrophy mutation analysis in exon 4 of BIGH3 gene by direct sequencing of genomic DNA from peripheral blood was performed. Histopathological examination of corneal tissue of the patient was performed after penetrating keratoplasty. After keratoplasty the time necessary for complete healing of the epithelial defect was evaluated.
Results
We revealed a heterocygous single base pair substitution 417C→T. The heterozygous transition alters the amino acid sequence from Arg124Cys. The diagnosis was confirmed by histopathological examination of corneal tissue. After keratoplasty the time for complete healing of the epithelial defect was clear delayed. Still on the 32nd postoperative date an epithelial defect was present. Not till then 46 days after transplantation the complete epithelial healing was detected.
Conclusions
Also in this case delayed epithelial healing after penetrating keratoplasty in patient with both histopathological and molecular genetic proved lattice corneal dystrophy was evidenced. Adequate consultation of patients should be made.

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