A Novel Variant Lattice Corneal Dytrophy Caued by Aociation of Mutation (V625D) in TGFBI Gene

Purpoe To characterize the molecular defect in the TGFBI gene in a Chinee family affected with an atypical lattice corneal dytrophy. Deign Cae report and experimental tudy. Method Molecular genetic analyi wa performed on the DNA extracted from peripheral leucocyte from a Chinee family with atypical lattice corneal dytrophy. Fifty normal unrelated ubject of Chinee origin were ued a control. All exon of the TGFBI gene were amplified by polymerae chain reaction and directly equenced. Reult Bilateral, ymmetrical, ridgy round pattern of opacitie with uneven urface and thin lattice line were noted in the proband. Analyi of exon 14 revealed a heterozygou T to A tranition on codon 625. The mutation wa not detected in the unaffected family member and 50 unaffected individual. Concluion The novel TGFBI gene mutation (V625D) i aociated with an early-onet variant of lattice corneal dytrophy. Thi cae highlight the utility of molecular genetic analyi in differentiating corneal dytrophie aociated with an atypical phenotype from nondytrophic condition.