A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in British population.

@article{Elashry2005ACA,
  title={A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in British population.},
  author={M F El-ashry and Mai Mohamed Abd El-Aziz and Alison J. Hardcastle and Shomi Shanker Bhattacharya and Neil D. Ebenezer},
  journal={Ophthalmic research},
  year={2005},
  volume={37 6},
  pages={310-7}
}
AIMS To identify the underlying mutations in our British families and sporadic patients with different types of corneal dystrophies (CDs) and to establish a phenotype-genotype correlation. METHODS Twenty-nine patients, 9 sporadic and 20 patients from 7 families were subjected to both clinical and genetic examination. Slit lamp examination was performed for all patients who participated in the study to assess their corneal phenotype. Genomic DNA was extracted from 10 ml venous blood, and the… CONTINUE READING