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Cornea
2017 Feb 01;362:210-216. doi: 10.1097/ICO.0000000000001045.
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Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI.
Kattan JM
,
Serna-Ojeda JC
,
Sharma A
,
Kim EK
,
Ramirez-Miranda A
,
Cruz-Aguilar M
,
Cervantes AE
,
Frausto RF
,
Zenteno JC
,
Graue-Hernandez EO
,
Aldave AJ
.
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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.
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