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Jaffer Kattan, Juan Carlos Serna-Ojeda, Eung Kweon Kim, Arturo J Ramirez-Miranda, Juan Carlos Zenteno, Anthony J Aldave; Vortex pattern of corneal deposits in granular corneal dystrophy associated with the p.(ArgR555WTrp) mutation in TGFBI. Invest. Ophthalmol. Vis. Sci. 2016;57(12):4828.
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© ARVO (1962-2015); The Authors (2016-present)
To describe two unrelated families with multiple family members demonstrating an atypical vortex pattern of corneal deposits confirmed to be granular corneal dystrophy (GCD1) following identification of the p.(Arg555Trp) mutation in the transforming growth factor β-induced gene (TGFBI).
A slit lamp examination was performed on individuals from two North-American families, one of Mexican descent and a second of Italian descent. Following DNA extraction from peripheral blood leukocytes or buccal swabs from affected individuals and their unaffected relatives (20 in the Mexican family and 55 in the Italian family), TGFBI screening was performed.
Eight of 20 individuals in the Mexican family and 22/78 in the Italian family demonstrated corneal stromal opacities. Seven of the eight affected individuals in the Mexican family and three of the 22 affected individuals in the Italian family demonstrated an atypical 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.
GCD1 may be associated with a vortex pattern of anterior stroma 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 epithelial cells.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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