Lattice dystrophy-like localized amyloidosis of the cornea secondary to trichiasis.
OBJECTIVE
To report a case of stellate and branching linear corneal stromal amyloid deposits secondary to trichiasis and the use of molecular genetic analysis to exclude lattice corneal dystrophy.


METHODS
Case report and review of the literature. A 30-year-old man with a history of chronic ocular irritation was found to have distichiasis, epiblepharon, and unilateral corneal amyloidosis indistinguishable from lattice corneal dystrophy. Screening of the TGFBI gene was performed to rule out a previously reported mutation associated with lattice corneal dystrophy.


RESULTS
A corneal biopsy performed before presentation to the authors confirmed the presence of corneal amyloidosis. Screening of exons 4, 11, 12, and 14 in the TGFBI gene identified 2 previously reported polymorphisms, Leu472Leu and Phe540Phe, but no other coding region changes.


CONCLUSIONS
Corneal stromal amyloidosis clinically resembling lattice corneal dystrophy may be associated with trichiasis. The exclusion of a TGFBI-associated corneal dystrophy in this case, leaving trichiasis as the most likely cause of the corneal amyloid deposition, demonstrates the utility of molecular genetic analysis in confirming or refuting a presumptive clinical diagnosis.
Aldave
Anthony J
AJ
Cornea Service, The Jules Stein Eye Institute, University of California Los Angeles Medical Center, Los Angeles, California 90095, USA. aldave@jsei.ucla.edu
Principe
Alexandre H
AH
Lin
Danny Y
DY
Yellore
Vivek S
VS
Small
Kent W
KW
D000328:Adult; D000686:Amyloidosis / Q000209:etiology* / Q000235:genetics; D003316:Corneal Diseases / Q000209:etiology* / Q000235:genetics; D003319:Corneal Stroma / Q000473:pathology*; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics; D005140:Eyelashes; D005141:Eyelid Diseases / Q000150:complications*; D006201:Hair Diseases / Q000150:complications*; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D016212:Transforming Growth Factor beta / Q000235:genetics; D000099222:betaIG-H3 Protein
D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein