title: An unusual clinical phenotype of Avellino corneal dystrophy associated with an Arg124His beta iG-H3 mutation in an African-American woman.
abstract: OBJECTIVE
  To describe the clinical features, histologic changes, and genetic analysis of Avellino corneal dystrophy in an African-American woman.
  
  
  METHODS
  Interventional case report.
  
  
  METHODS
  A 79-year-old African-American woman with corneal deposits consistent with Avellino corneal dystrophy was studied with histologic and genetic analysis.
  
  
  RESULTS
  The patient had multiple crumb-like opacities in the anterior stroma of both eyes. Deep to these lesions were numerous faint, stellate lattice lesions. Corneal scraping confirmed the presence of Masson trichrome and Congo red positive subepithelial deposits. Genetic analysis revealed a heterozygous CGC/CAC change in exon 4 of the beta iG-H3 gene, resulting in an arginine to histidine substitution at codon 124.
  
  
  CONCLUSIONS
  This case reveals several novel findings, including surface changes resembling vortex dystrophy and large granular deposits protruding through the anterior corneal surface. This is the first case described in an African-American patient.
authors.affiliation: Ocular Surface and Tear Center, LA County and USC Medical Center Department of Ophthalmology, Doheny Eye Institute, Los Angeles, California 90033, USA. meallet@usc.edu
authors.forename: Mario A
authors.initials: MA
authors.lastname: Meallet
authors.forename: John A
authors.initials: JA
authors.lastname: Affeldt
authors.forename: Trevor J
authors.initials: TJ
authors.lastname: McFarland
authors.forename: Binoy
authors.initials: B
authors.lastname: Appukuttan
authors.forename: Rusell
authors.initials: R
authors.lastname: Read
authors.forename: J Timothy
authors.initials: JT
authors.lastname: Stout
authors.forename: Narsing A
authors.initials: NA
authors.lastname: Rao
mesh_terms: D001741:Black or African American; D000368:Aged; D019943:Amino Acid Substitution; D003062:Codon; D003317:Corneal Dystrophies, Hereditary / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D010641:Phenotype; D017354:Point Mutation; D016212:Transforming Growth Factor beta / Q000235:genetics*; D000099222:betaIG-H3 Protein
chemical_list: D003062:Codon; D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein