Lattice corneal dytrophy aociated with the Ala546Ap and Pro551Gln miene change in the TGFBI gene

Purpoe To report a phenotypic variant of lattice corneal dytrophy aociated with two miene change, Ala546Ap and Pro551Gln, in the tranforming growth factor-β-induced gene (TGFBI). Deign Experimental tudy. Method Genomic DNA wa obtained from the proband a well a affected and unaffected family member. Exon 4, 11, 12, and 14 of the TGFBI gene were amplified and equenced. Additionally, a corneal button excied from the proband wa examined by light and tranmiion electron microcopy. Haplotype analyi wa performed on the probandʹ family and member of a previouly identified pedigree with the ame TGFBI gene miene change. Reult Bilateral, ymmetric, radially arranged, branching refractile line within and urrounding an area of central anterior tromal haze were noted in the proband. Multiple polymorphic, refractile depoit were noted in the mid and poterior troma in both the proband and her daughter. Light and electron microcopic analye demontrated amyloid and excluded the preence of depoit characteritic of granular corneal dytrophy. creening of TGFBI exon 12 in the proband and her affected daughter revealed two miene change, Ala546Ap and Pro551Gln (both abent in 250 control chromoome). Haplotype analyi uggeted that the mutation in thi family and in a previouly identified pedigree reflect a founder effect, rather than an independent occurrence. Concluion We preent a phenotypic variant of lattice corneal dytrophy aociated with the Ala546Ap and Pro551Gln miene change in exon 12 of the TGFBI gene. A common ancetor appear to account for the miene mutation oberved in thi pedigree and in a previouly reported family.