Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated with the p.(Arg555Trp) Mutation in TGFBI

Jaffer M. Kattan, Juan Carlos Serna-Ojeda, Anushree Sharma, Eung K. Kim, Arturo Ramirez-Miranda, Marisa Cruz-Aguilar, Aleck E. Cervantes, Ricardo F. Frausto, Juan Carlos Zenteno, Enrique O. Graue-Hernandez, Anthony J. Aldave

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2 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)210-216
Number of pages7
JournalCornea
Volume36
Issue number2
DOIs
Publication statusPublished - 2017 Feb 1

All Science Journal Classification (ASJC) codes

  • Ophthalmology

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    Kattan, J. M., Serna-Ojeda, J. C., Sharma, A., Kim, E. K., Ramirez-Miranda, A., Cruz-Aguilar, M., Cervantes, A. E., Frausto, R. F., Zenteno, J. C., Graue-Hernandez, E. O., & Aldave, A. J. (2017). Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated with the p.(Arg555Trp) Mutation in TGFBI. Cornea, 36(2), 210-216. https://doi.org/10.1097/ICO.0000000000001045