gms | German Medical Science

104th DOG Annual Meeting

21. - 24.09.2006, Berlin

TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine

Meeting Abstract

  • V. M. Pampukha - Institute of Molecular Biology and Genetics National Academy of Science of Ukraine
  • G. I. Drozhyna - The Filatov Institute of Eye Diseases and Tissue Therapy Academy of Medical Science of Ukraine
  • L. A. Livshits - Institute of Molecular Biology and Genetics National Academy of Science of Ukraine

Deutsche Ophthalmologische Gesellschaft e.V.. 104. Jahrestagung der Deutschen Ophthalmologischen Gesellschaft (DOG). Berlin, 21.-24.09.2006. Düsseldorf, Köln: German Medical Science; 2006. Doc06dogP140

The electronic version of this article is the complete one and can be found online at:

Published: September 18, 2006

© 2006 Pampukha et al.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( You are free: to Share – to copy, distribute and transmit the work, provided the original author and source are credited.




Mutations in TGFBI gene cause for the group of autosomal dominant diseases of the cornea: granular (Groenouw type I), lattice type I, lattice type 3A, Thiele-Benke, Reis-Bucklers and Avellino corneal dystrophies.


In our study six previously reported mutations of the TGFBI gene: R124C, R124H, R124L (exon 4), R555W, R555Q, A546T (exon 12) were analyzed using polymerase chain reaction followed by restriction digestion in 114 individuals from 41 unrelated families with different forms of corneal dystrophy.


The R555W mutation was detected in patients from 5/10 families with suspected clinical diagnosis of granular corneal dystrophy. The R124C mutation was detected in unaffected 10-year old individual, in patients from 15/21 families with lattice corneal dystrophy, and in patient with clinical diagnosed Reis-Bucklers corneal dystrophy. R555Q mutations was detected in patient with clinical diagnosed Reis-Bucklers. As far as R124C mutation associeted with lattice corneal dystrophy and R555Q mutation associeted with Thiele-Benke corneal dystrophy we have concluded that this patients were misdiagnosed. A546T mutation was not detected in any patients from 8 families with lattice corneal dystrophy type 3A.


These results show that TGFBI gene mutations analysis is important for differential diagnosis of corneal dystrophies and genetic consulting in high risk families.