A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layer.

ABSTRACT:

Purpose

Corneal dystrophy of Bowman's layer (CDB) belongs to a group of dystrophies associated with mutations in the transforming growth factor-beta-induced (TGFBI) gene. CDB is further divided into a geographic variant (CDB1/Reis Bücklers, RBCD), and a honeycomb variant (CDB2/Thiel Behnke, TBCD). We undertook mutational analysis of TGFBI in a family with an unusual CDB variant and describe a novel phenotype-genotype association.

Methods

Individuals from a pedigree with CDB underwent extensive phenotyping, including laser scanning in vivo confocal microscopy, and histological examination of four corneal buttons obtained at penetrating keratoplasty. Transmission electron microscopy of an excised allograft cornea from one affected individual was also performed. Following infor

SUBMITTER: Wheeldon CE 

PROVIDER: S-EPMC2518171 | biostudies-literature | 2008 Aug

REPOSITORIES: biostudies-literature