In our study, 5 previously reported mutations of the TGFBI gene – R124C, R124H, R124L (exon 4), R555W, R555Q (exon 12) – were analyzed using polymerase chain reaction followed by restriction digestion in 48 individuals from 19 unrelated families with different forms of corneal dystrophy from different regions of Ukraine. The R555W mutation was detected in 6 patients from 4 families with granular corneal dystrophy. The R124C mutation was detected in 1 unaffected 10-year-old individual and in 24 patients from 8 families with lattice corneal dystrophy. As far as the R124C mutation detected in 1 patient with clinically diagnosed Reis-Bucklers corneal dystrophy is concerned, we concluded that this patient was misdiagnosed. The obtained results show that TGFBI gene mutation analysis is important as well for the early differential diagnosis of corneal dystrophies and genetic consulting in high-risk families.

Drozhzhina GI, Gaydamaka TB, Ivanovskaya EV: The dynamics of changes in the structure of cornea pathology indicated to keratoplasty for the period from 1987 to 1996. Oftal Journ (Odessa) 1998;4:281–286.
Weidle EG: Epithelial and stroma corneal dystrophies. Ophthalmologe 1996;93:754–767.
Kuchle M, Green WR, Volcker HE, Barraquer J: Reevaluation of corneal dystrophies of Bowman’s layer and the anterior stroma (Reis-Bucklers and Thiel-Behnke types): a light and electron microscopic study of eight corneas and a review of the literature. Cornea 1995;14:333–354.
Munier LF, Korvatska E, Djemai A, Le Paslier D, Zofragos L, Pescia G, Schorderet DF: Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet 1997;15:247–251.
Skonier J, Neubauer M, Madisen L, Benett K, Plowman GD, Purchio AF: cDNA cloning and sequence analysis of beta ig-h3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-beta. DNA Cell Biol 1992;11:511–522.
LeBaron RG, Bezverkov KI, Zimber MP, Pavelec R, Skonier J, Purchio AF: Beta IG-H3, a novel secretory protein inducible by transforming growth factor-beta, is present in normal skin and promotes the adhesion and spreading of dermal fibroblasts in vitro. J Invest Dermatol 1995;104:844–849.
Takacs L, Boross P, Tozser J, Modis L Jr, Toth G, Berta A: Transforming growth factor-beta induced protein, betaIG-H3, is present in degraded form and altered localization in lattice corneal dystrophy type I. Exp Eye Res 1998;66:739–745.
Streeten BW, Qi Y, Klintworth GK, Eagle RC, Strauss JA, Bennett K: Immunolocalization of big-h3 protein in5q31-linked corneal dystrophies and normal corneas. Arch Ophthalmol 1999;117:67–75.
Korvatska E, Munier FL, Djemai A, Wang MX, Frueh B, Chiou AG-Y, Uffer S, Ballestrazzi E, Braunstein RE, Forster RK, Culberston WW, Boman H, Zografos L, Schorderet DF: Mutations hot spots in 5q31-linked corneal dystrophies. Am J Hum Genet 1998;62:320–324.
Dighiero P, Niel F, Ellies P, De Hermies F, Savoldelli M, Renard G, Delpech M, Valleix S: Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene. Opthalmology 2001;108:818–823.
Afshari N, Mullaly J, Afshari M, Steinert RF, Adamis AP, Azar D, Talamo J: Survey of patients with granular, lattice, Avellino and Reis-Bucklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes. Arch Ophthalmol 2001;119:16–22.
Dighiero P, Valleix S, De Hermies F, Drunat S, Ellies P, Savoldelli M, Pouliquen Y, Delpech M, Legeais JM, Renard G: Clinical, histological, and ultrastructural features of the corneal dystrophy caused by the R124L mutation of the BIGH3 gene. Ophtalmology 2000;107:1353–1357.
Klintworth G: Advances in the molecular genetics of corneal dystrophies. Am J Ophthalmol 1999;128:747–754.
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.