title: Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI.
abstract: OBJECTIVE
  To describe 2 unrelated families with multiple members demonstrating a less commonly recognized vortex pattern of corneal deposits confirmed to be granular corneal dystrophy type 1 (GCD1) after identification of the p.(Arg555Trp) mutation in the transforming growth factor β-induced gene (TGFBI).
  
  
  METHODS
  A slit-lamp examination was performed on individuals from 2 families, one of Mexican descent and a second of Italian descent. After DNA extraction from affected individuals and their unaffected relatives, TGFBI screening was performed.
  
  
  RESULTS
  Eight of 20 individuals in the Mexican family and 20 of 55 in the Italian family demonstrated corneal stromal opacities. Seven of the 8 affected individuals in the Mexican family and 4 of the 20 affected individuals in the Italian family demonstrated a phenotype characterized by a "sea fan" or vortex pattern of superficial stromal corneal deposits originating from the inferior aspect of the cornea. Screening of TGFBI in both families revealed a heterozygous missense mutation [p.(Arg555Trp)] in exon 12, confirming the diagnosis of GCD1.
  
  
  CONCLUSIONS
  Our findings demonstrate that GCD1 may present with a vortex pattern of anterior stromal deposits. Although this pattern of dystrophic deposits is not recognized by clinicians as a typical phenotype of GCD1, it is consistent with the production of the majority of the TGFBI protein by the corneal epithelium.
authors.affiliation: *Stein Eye Institute, UCLA, Los Angeles, CA; †Department of Cornea and Refractive Surgery, Institute of Ophthalmology "Conde de Valenciana," Mexico City, Mexico; ‡Department of Ophthalmology, Yonsei University, Seoul, Korea; §Department of Genetics-Research Unit, Institute of Ophthalmology "Conde de Valenciana," Mexico City, Mexico; and ¶Department of Biochemistry, Faculty of Medicine, UNAM, Mexico City, Mexico.
authors.forename: Jaffer M
authors.initials: JM
authors.lastname: Kattan
authors.forename: Juan Carlos
authors.initials: JC
authors.lastname: Serna-Ojeda
authors.forename: Anushree
authors.initials: A
authors.lastname: Sharma
authors.forename: Eung K
authors.initials: EK
authors.lastname: Kim
authors.forename: Arturo
authors.initials: A
authors.lastname: Ramirez-Miranda
authors.forename: Marisa
authors.initials: M
authors.lastname: Cruz-Aguilar
authors.forename: Aleck E
authors.initials: AE
authors.lastname: Cervantes
authors.forename: Ricardo F
authors.initials: RF
authors.lastname: Frausto
authors.forename: Juan Carlos
authors.initials: JC
authors.lastname: Zenteno
authors.forename: Enrique O
authors.initials: EO
authors.lastname: Graue-Hernandez
authors.forename: Anthony J
authors.initials: AJ
authors.lastname: Aldave
mesh_terms: D000293:Adolescent; D000369:Aged, 80 and over; D002648:Child; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis* / Q000235:genetics*; D003318:Corneal Opacity / Q000175:diagnosis; D003319:Corneal Stroma / Q000473:pathology*; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D007558:Italy; D008297:Male; D008800:Mexico; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D016133:Polymerase Chain Reaction; D066167:Slit Lamp; D016212:Transforming Growth Factor beta / Q000235:genetics*; D055815:Young Adult; D000099222:betaIG-H3 Protein
chemical_list: D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein