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Vol 42(2008) N 1 p. 1-8;
L.U. Dzhemileva1, E.R. Grinberg1, A.M. Tazetdinov1, I.S. Zaidullin2, M.M. Bikbov2, V.V. Musina3, E.K. Khusnutdinova1

Molecular genetic basis of tapetoretinal degeneration

1Institute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of Sciences, Ufa, 4500054, Russia
2Ufa Institute of Eye Diseases, Ufa, 450000, Russia
3Ufa Clinical Hospital no. 8, Ufa, 450112, Russia
Received - 2006-12-01; Accepted - 2007-03-19

The review considers tapetoretinal degeneration (TD), a severe incurable disease occurring at a frequency of 1 per 3500-5000 people. TD is most commonly caused by mutations of the genes for rhodopsin (RHO), peripherin (RDS), and retinol acetyltransferase (RPE65). Since pigmentary degeneration strongly correlates with mutations of these genes, it is possible to develop approaches to DNA diagnosis of hereditary retinal dystrophies, which are common in practical ophthalmology, and to exactly, rather than probabilistically, evaluate its risk. Molecular analysis of the TD-associated changes in the genes that ensure the proper function of photoreceptors and the retinal pigment epithelium will provide for a better understanding of the physiological and pathological processes occurring in the retina, as well as for the development of pathogenetic therapy in TD.

tapetoretinal degeneration of retina, rhodopsin gene, peripherin gene, retinol acetyltransferase gene, SSCP analysis, mutation screening



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