Clinical and genetic profile of Avellino corneal dystrophy in 2 families from north India

Abstract

Objective: To report Avellino corneal dystrophy and underlying R124H mutation in 2 families of Indian origin. Methods: Peripheral blood was collected in EDTA for genomic DNA isolation from leukocytes of all affected and unaffected individuals. Amplification of transforming growth factor β-induced gene (TGFBI) using polymerase chain reaction followed by direct sequencing was carried out to determine the mutations underlying the disorder. A detailed clinical evaluation was undertaken to establish a genotype-phenotype correlation. Results: R124H mutation resulting from a missense heterozygous substitution of G to A at nucleotide 418 of TGFBI was detected in all affected members of the 2 familie..