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Atypical vortex pattern of corneal deposits in granular corneal dystrophy
Anthony J Aldave1, Vivek S Yellore, David G Hwang
1Cornea Service, Department of Ophthalmology, The Jules Stein Eye Institute, The University of California, Los Angeles 90095, USA. aldave@jsei.ucla.edu
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.