Chronic clinical course of two patients with severe corneal dystrophy caused by homozygous R124H mutations in the betaig-h3 gene.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 10844061.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
To report the chronic clinical course of two patients with homozygous R124H mutations in the betaig-h3 gene. Case reports. Two patients with homozygous R124H mutations in the betaig-h3 gene developed severe juvenile corneal opacities that required keratoplasty. After surgery, corneal opacities recurred and limited the recovery of visual acuity in the chronic follow-up. In patients with homozygous R124H mutations in the betaig-h3 gene, recurrence of corneal opacities after keratoplasty limits the recovery of visual acuity in the chronic follow-up.
Medical subject headings
- Corneal Dystrophies, Hereditary
- Corneal Opacity
- Extracellular Matrix Proteins
- Neoplasm Proteins
- Point Mutation
- Transforming Growth Factor beta