Autosomal recessive congenital hereditary corneal dystrophy associated with a novel SLC4A11 mutation in two consanguineous Tunisian families.
Zohra ChibaniImen Zone AbidPeter SöderkvistJamel FekiMounira Hmani AifaPublished in: The British journal of ophthalmology (2021)
To the best of our knowledge, this is the first clinical and genetic study exploring CHED in Tunisia. The present work also expands the list of pathogenic genotypes in SLC4A11 gene and its associated clinical diagnosis giving more insights into genotype-phenotype correlations.