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. Key Words: granular corneal dystrophy, TGFB1, betaig-h3, keratoepithelin, vortex keratopathy.
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Yonsei Univ, Coll Med, Dept Ophthalmol, Vis Res Inst,Severance Hosp, Seoul, South Korea
Yonsei Univ, Coll Med, Corneal Dystrophy Res Inst, Seoul, South KoreaYonsei Univ, Coll Med, Dept Ophthalmol, Vis Res Inst,Severance Hosp, Seoul, South Korea
Lee, Hun
Choi, Seung-il
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Yonsei Univ, Coll Med, Corneal Dystrophy Res Inst, Seoul, South KoreaYonsei Univ, Coll Med, Dept Ophthalmol, Vis Res Inst,Severance Hosp, Seoul, South Korea
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Yonsei Univ, Coll Med, Corneal Dystrophy Res Inst, Dept Ophthalmol,Severance Hosp, Seoul, South Korea
Inha Univ, Sch Med, Dept Ophthalmol, Inchon, South KoreaYonsei Univ, Coll Med, Corneal Dystrophy Res Inst, Dept Ophthalmol,Severance Hosp, Seoul, South Korea
Lee, Jae Hwan
Cristol, Stephen M.
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Emory Univ, Dept Ophthalmol, Atlanta, GA 30322 USAYonsei Univ, Coll Med, Corneal Dystrophy Res Inst, Dept Ophthalmol,Severance Hosp, Seoul, South Korea
Cristol, Stephen M.
Kim, Woon Cho
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Emory Univ, Rollins Sch Publ Hlth, Atlanta, GA 30322 USAYonsei Univ, Coll Med, Corneal Dystrophy Res Inst, Dept Ophthalmol,Severance Hosp, Seoul, South Korea
Kim, Woon Cho
Chung, Eui Sang
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Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Ophthalmol, Seoul, South KoreaYonsei Univ, Coll Med, Corneal Dystrophy Res Inst, Dept Ophthalmol,Severance Hosp, Seoul, South Korea
Chung, Eui Sang
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Tchah, Hungwon
Kim, Man Soo
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Catholic Univ, Dept Ophthalmol, Seoul, South KoreaYonsei Univ, Coll Med, Corneal Dystrophy Res Inst, Dept Ophthalmol,Severance Hosp, Seoul, South Korea
Kim, Man Soo
Nam, Chung Mo
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Yonsei Univ, Coll Med, Dept Prevent Med & Publ Hlth, Seoul, South KoreaYonsei Univ, Coll Med, Corneal Dystrophy Res Inst, Dept Ophthalmol,Severance Hosp, Seoul, South Korea
Nam, Chung Mo
Cho, Hyun-Soo
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Yonsei Univ, Dept Biol, Coll Life Sci & Biotechnol, Seoul 120749, South KoreaYonsei Univ, Coll Med, Corneal Dystrophy Res Inst, Dept Ophthalmol,Severance Hosp, Seoul, South Korea
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Yonsei Univ, Coll Med, Dept Ophthalmol, Corneal Dystrophy Res Inst, Seoul 120749, South Korea
Inha Univ, Coll Med, Dept Ophthalmol, Inchon, South KoreaYonsei Univ, Coll Med, Dept Ophthalmol, Corneal Dystrophy Res Inst, Seoul 120749, South Korea
Lee, Jae Hwan
Stulting, R. Doyle
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Emory Univ, Sch Med, Dept Ophthalmol, Atlanta, GA 30322 USAYonsei Univ, Coll Med, Dept Ophthalmol, Corneal Dystrophy Res Inst, Seoul 120749, South Korea
Stulting, R. Doyle
Lee, Dong Ho
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Yonsei Eye Ctr, Seoul, South KoreaYonsei Univ, Coll Med, Dept Ophthalmol, Corneal Dystrophy Res Inst, Seoul 120749, South Korea
Lee, Dong Ho
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Lee, Christopher Seungkyu
Kim, Woon Cho
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机构:Yonsei Univ, Coll Med, Dept Ophthalmol, Corneal Dystrophy Res Inst, Seoul 120749, South Korea
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Emory Univ, Corneal Dystrophy Res Inst, Dept Ophthalmol, Decatur, GA USAEmory Univ, Corneal Dystrophy Res Inst, Dept Ophthalmol, Decatur, GA USA
Cristol, S. M.
Lee, J. H.
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Inha Univ, Corneal Dystrophy Res Inst, Dept Ophthalmol, Incheon, South Korea
Yonsei Univ, Seoul, South KoreaEmory Univ, Corneal Dystrophy Res Inst, Dept Ophthalmol, Decatur, GA USA
Lee, J. H.
Kim, W. C.
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Emory Univ, Decatur, GA 30033 USAEmory Univ, Corneal Dystrophy Res Inst, Dept Ophthalmol, Decatur, GA USA
Kim, W. C.
Chung, E. S.
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Sungkyunkwan Univ, Dept Ophthalmol, Seoul, South KoreaEmory Univ, Corneal Dystrophy Res Inst, Dept Ophthalmol, Decatur, GA USA
Chung, E. S.
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Tchah, H.
Kim, M. S.
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Catholic Univ, Dept Ophthalmol, Seoul, South KoreaEmory Univ, Corneal Dystrophy Res Inst, Dept Ophthalmol, Decatur, GA USA
Kim, M. S.
Nam, C. M.
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Yonsei Univ, Dept Prevent Med & Publ Hlth, Seoul, South KoreaEmory Univ, Corneal Dystrophy Res Inst, Dept Ophthalmol, Decatur, GA USA
Nam, C. M.
Cho, H. -S.
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Yonsei Univ, Dept Biol, Seoul, South KoreaEmory Univ, Corneal Dystrophy Res Inst, Dept Ophthalmol, Decatur, GA USA
Cho, H. -S.
Kim, E. K.
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Yonsei Univ, Project Team Nanobiomat Cell Based Implants BK21, Corneal Dystrophy Res Inst, Dept Ophthalmol, Seoul, South KoreaEmory Univ, Corneal Dystrophy Res Inst, Dept Ophthalmol, Decatur, GA USA