Purpose: To report the appearance of an unusual vortex pattern of corneal deposits in two patients with the R555W mutation in the transforming growth factor beta-induced gene (TGFB1) associated with granular corneal dystrophy.
Methods: DNA from affected patients and unaffected relatives was isolated from buccal swabs, and TGFB1 mutation screening was performed.
Results: The proband and an affected daughter demonstrated rays of deposits emanating from a point in the inferior cornea of each eye in a "sea fan" or vortex pattern. Screening all 17 exons of TGFB1 in the proband identified a single missense mutation (C1710T) in exon 12, consistent with the diagnosis of granular corneal dystrophy. The identical mutation was identified in the affected daughter.
Conclusions: In spite of the strict phenotype-genotype correlation reported for the TGFB1-associated corneal dystrophies, atypical clinical findings may be produced by previously identified, conserved mutations.