title: Lattice dystrophy-like localized amyloidosis of the cornea secondary to trichiasis.
abstract: 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.
authors.affiliation: Cornea Service, The Jules Stein Eye Institute, University of California Los Angeles Medical Center, Los Angeles, California 90095, USA. aldave@jsei.ucla.edu
authors.forename: Anthony J
authors.initials: AJ
authors.lastname: Aldave
authors.forename: Alexandre H
authors.initials: AH
authors.lastname: Principe
authors.forename: Danny Y
authors.initials: DY
authors.lastname: Lin
authors.forename: Vivek S
authors.initials: VS
authors.lastname: Yellore
authors.forename: Kent W
authors.initials: KW
authors.lastname: Small
mesh_terms: 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
chemical_list: D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein