Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI. Issue 2 (February 2017)

• Record Type: Journal Article
• Authors: Kattan, Jaffer M.; Serna-Ojeda, Juan Carlos; Sharma, Anushree; Kim, Eung K.; Ramirez-Miranda, Arturo; Cruz-Aguilar, Marisa; Cervantes, Aleck E.; Frausto, Ricardo F.; Zenteno, Juan Carlos; Graue-Hernandez, Enrique O.; Aldave, Anthony J.
• Is Part Of: Cornea. Volume 36:Issue 2(2017)
• Publication Date: 2017-02
• Subjects: granular corneal dystrophy -- TGFBI -- vortex -- corneal epithelium; Cornea -- Periodicals; Cornea -- Periodicals; Cornée -- Périodiques; 617.719
• DOI: 10.1097/ICO.0000000000001045
• Languages: English
• ISSNs: 0277-3740

Abstract

Abstract : Purpose: 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.