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E. Tsina, A. Michos, G. Michos, E. Laiou; DNA Bank of Eye Diseases in Greek Population. Invest. Ophthalmol. Vis. Sci. 2008;49(13):3094.
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© ARVO (1962-2015); The Authors (2016-present)
To create a National and Ethnic Mutation Database (NEMDB) of eye disorders for greek patients and provide the correlation between phenotypic and genotypic identification in that population. This is accomplished through clinical diagnosis of ophthalmic diseases, DNA extraction, molecular diagnosis, and registration of mutations.
A complete ophthalmological work-up was performed on patients, as well as members of their families, followed by DNA extraction. A written consent was obtained in all cases. Imaging and electrophysiological testing was done depending on the case.
We diagnosed and categorized 137 patients. Our population included patients suffering from congenital glaucoma (6%), optic atrophy (4%), albinism (4%), tapetoretinal diseases, isolated (47%) and syndromic (14%), maculopathies (18%), choroidal dystrophies (2%), and syndromes of the anterior and posterior chamber (5%). A novel missense mutation at position 380 (G to T) was detected in the FOXC1 gene in a greek family with Axenfeld Rieger Syndrome. The mutation segregated with disease phenotype in the family and was absent in the control population. The mutation is predicted to result in an arginine to leucine change at position 127 within helix 3 of the forkhead domain. The construction of a database in a NEMDB platform and its link with the databases of other European countries are ongoing.
To our knowledge, this is the first attempt to combine clinical and molecular diagnosis of ophthalmic diseases in Greece in a population as young as infants. The creation of a DNA database will aid in a better understanding of eye diseases and in registering the genetic heterogeneity in the greek population.
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