Anterior basement membrane corneal dystrophy and pseudo-unilateral lattice corneal dystrophy in a patient with recurrent corneal erosions.
OBJECTIVE
To report the utility of genetic testing in the diagnosis and management of patients with suspected corneal dystrophies.


METHODS
Case report.


METHODS
A 58-year-old man with a history of recurrent corneal erosions was diagnosed with bilateral anterior basement membrane dystrophy and unilateral lattice corneal dystrophy. All 17 exons of the TGFBI gene were screened for mutations previously associated with lattice corneal dystrophy as well as novel coding region changes.


RESULTS
No mutations were found in the 17 exons of the TGFBI gene. A nucleotide change in exon 6 (651C>G) did not result in a change in the encoded amino acid (Leu217Leu).


CONCLUSIONS
In cases of suspected TGFBI corneal dystrophies, genetic testing is a useful tool to confirm the clinical diagnosis. In this case of suspected unilateral lattice corneal dystrophy, screening of the TGFBI gene ruled out the diagnosis, raising the possibility that the corneal changes were related to the coexistent anterior basement membrane dystrophy.
Aldave
Anthony J
AJ
Cornea Service, The Jules Stein Eye Institute, University of California Los Angeles Medical Center, 90095, USA. aldave@jsei.ucla.edu
Lin
Danny Y
DY
Principe
Alexandre H
AH
Yellore
Vivek S
VS
Weissman
Barry A
BA
D001485:Basement Membrane / Q000473:pathology*; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis* / Q000235:genetics; D005091:Exons; D016326:Extracellular Matrix Proteins / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D012008:Recurrence; D016212:Transforming Growth Factor beta / Q000235:genetics; D000099222:betaIG-H3 Protein
D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein