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Hereditary Corneal Stromal Dystrophies in Ukraine: Genetical, Clinical, Histological, Ultrastructural Analysis

1Livshits L. A., 2Droshina G. I., 1Pampucha V. N., 3Vit V. V., 4Dumbrova N. E.,
1Institute molecular biology and genetics NAU, Department of human genetics (Kiev)
2The Filatov Institute of Eye Diseases & Tissue Therapy, Dept. of Pathology and Microsurgery (Odessa)
3The Filatov Institute of Eye Diseases, Department of pathology (Odessa)
4The Filatov Institute of Eye Diseases, Department of corneal microsurgery (Odessa)

Background: During past few years it have been shown that mutations in transforming growth factor ß-indused gene (TGFBI, also called BIGH3) are the molecular basis for six autosomal-dominant corneal stromal dystrophies (CD) that have been divided into four sybtypes, including granular dystrophy, lattice dystrophy, the combined lattice-granular dystrophy and honeycomb-shaped dystrophy.
Patients and methods: The exon 4th of BIGH3 gene mutant variants (R124L, R124C, R124H mutations), clinical, histological and ultrastructural analysis for 21 subjects from 13 unrelated CD-families from Ukraine have been performed. Light microscopy and transmission electron microscopy were performed on corneal specimens obtained during keratoplasty. After genomic DNA extraction from peripheral blood leukocytes of each family member, exon 4 of the TGFBI gene was amplified by polymerase chain reaction (PCR) with following Rsrll restriction digestion and agarose gel electrophoresis analysis.
Results and discussion: The mutant allele was detected for 8 of 11 patients with family history of lattice corneal dystrophy for precise mutations detection the sequence analysis of exon 4th of BIGH3 gene will be performed. In all this cases clinical diagnosis was confirmed by results of histological and ultrastructural analysis. However, besides these stereotyped forms, differential histologic diagnosis of atypical forms remains difficult, and these forms could misdiagnosed. We have suggested that negative mutation analysis results for three other patients are connected with wide genetic heterogenety of corneal dystrophy.
Conclusions: TGFBI gene mutations analysis is important for early differential diagnosis of CD and genetic consulting in high risk families, and in future development of effective preventive therapy.