Anthony J Aldave1, Vivek S Yellore, David G Hwang. 1. Cornea Service, Department of Ophthalmology, The Jules Stein Eye Institute, The University of California, Los Angeles 90095, USA. aldave@jsei.ucla.edu
Abstract
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.
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.
Authors: Jaffer M Kattan; Juan Carlos Serna-Ojeda; Anushree Sharma; Eung K Kim; Arturo Ramirez-Miranda; Marisa Cruz-Aguilar; Aleck E Cervantes; Ricardo F Frausto; Juan Carlos Zenteno; Enrique O Graue-Hernandez; Anthony J Aldave Journal: Cornea Date: 2017-02 Impact factor: 2.651