Atypical vortex pattern of corneal deposits in granular corneal dystrophy.
OBJECTIVE
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.
Cornea Service, Department of Ophthalmology, The Jules Stein Eye Institute, The University of California, Los Angeles 90095, USA. aldave@jsei.ucla.edu
Anthony J
AJ
Aldave
Vivek S
VS
Yellore
David G
DG
Hwang
D000328:Adult; D001120:Arginine / Q000235:genetics; D002648:Child; D003315:Cornea / Q000378:metabolism* / Q000473:pathology*; D003317:Corneal Dystrophies, Hereditary / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D005260:Female; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D016212:Transforming Growth Factor beta / Q000235:genetics; D053773:Transforming Growth Factor beta1; D014364:Tryptophan / Q000235:genetics
C508960:TGFB1 protein, human; D016212:Transforming Growth Factor beta; D053773:Transforming Growth Factor beta1; D014364:Tryptophan; D001120:Arginine