A Unique Corneal Dystrophy of Bowman’s Layer and Stroma Associated with the Gly623Asp Mutation in the Transforming Growth Factor β–Induced (TGFBI) Gene
Presented in part at: American Academy of Ophthalmology Annual Meeting, October, 2004; New Orleans, Louisana.
Received 30 September 2004; accepted 13 December 2004. published online 09 May 2005.
Purpose
To report a unique corneal dystrophy characterized by deposits at Bowman’s layer and stromal lattice lines associated with the Gly623Asp missense mutation in the transforming growth factor β–induced (TGFBI) gene.
Design
Experimental study.
Participants and Controls
The proband, 3 affected siblings, 4 unaffected relatives, and 100 control individuals.
Methods
Slit-lamp examination, photographic documentation, and isolation of genomic DNA from buccal mucosal swabs obtained from each family member examined. Exons 4 and 11 to 14 of the TGFBI gene were amplified and sequenced in these family members and in control individuals.
Main Outcome Measures
Clinical characteristics of corneal opacification in affected patients and presence of coding region changes in the TGFBI gene.
Results
Significant phenotypic variability, including polymorphic Bowman’s layer opacities and stromal lattice lines, was noted in the 4 affected siblings who were examined. Screening of TGFBI exon 14 in the proband, 3 affected siblings, and a 19-year-old unaffected relative revealed a missense change, Gly623Asp, that was absent in the other 3 unaffected relatives screened and in 200 control chromosomes.
Conclusions
We report a novel corneal dystrophy phenotype secondary to the Gly623Asp mutation in the TGFBI gene that is associated with clinical features of both lattice corneal dystrophy and a Bowman’s layer dystrophy. The presence of clinical features considered atypical for a TGFBI-associated dystrophy in this pedigree, as well as the wide range of phenotypic expressions of the Gly623Asp mutation in affected members, underscore the clinical utility of molecular genetic analysis in the diagnosis of suspected corneal dystrophies.
1Cornea Service, Jules Stein Eye Institute, University of California, Los Angeles, California.
2Doheny Eye Institute/Los Angeles County+USC Medical Center Department of Ophthalmology, Los Angeles, California.
Reprint requests and correspondence to Anthony J. Aldave, MD, Assistant Professor, The Jules Stein Eye Institute, 100 Stein Plaza, Los Angeles, CA 90095.
Manuscript no. 2004-149.
None of the authors has a financial interest in any products or services mentioned in the article.
Support provided by the Emily Plumb Estate and Trust, Florida (AJA).
ABSTRACT