Classic lattice corneal dystrophy associated with monoclonal gammopathy after exclusion of a TGFBI mutation.

ABSTRACT:

Purpose

The purpose of this study was to report the association of phenotypic features characteristic of lattice corneal dystrophy (LCD) with a monoclonal gammopathy of undetermined significance (MGUS) after exclusion of a coding region mutation in transforming growth factor beta-induced (TGFBI) gene.

Design

Case report.

Methods

Slit-lamp examination and collection of DNA for TGFBI screening were performed. A systemic evaluation was also performed to evaluate for conditions associated with systemic amyloidosis.

Results

A 65-year-old man demonstrated bilateral linear branching corneal stromal opacities characteristic of classic LCD. No mutations were found in any of the 17 exons of TGFBI or in the intron-exon boundary regions. Four previously described single nu

SUBMITTER: Kamal KM 

PROVIDER: S-EPMC2784604 | biostudies-literature | 2009 Jan

REPOSITORIES: biostudies-literature