Vpliv genetskih faktorjev na ekspresijo očesnih bolezni - II (Slovene)

Functional status of the retina in patients with hereditary eye diseases will be studied. Studies in patients with retinitis pigmentosa, which was initiated in previous project will be widened, whilst the population with Best''s vitelliform dystrophy and Stargardt''s macular dystrophy will be newly searched for and systematically studied. The patients will be examined with clinical and electrophysiological methods and classified according to subtypes and stage of the disease. Clinical usefulness of pattern electroretinography and electrooculography in correlation with autofluorescence method of the retinal pigment epithelium will be studied in diagnosis and follow-up of these diseases in comparison to other methods. Genotype will be ascertained and point mutations will be looked for using methods of molecular genetics. Phenotypic expression of the disease will be studied with respect to particular genotype. Special attention will be devoted to search of mutations in genes encoding the function of dopamine and melatonin, which are important neuromoulators in the process of photoreceptor cell renewal by the pigment epithelium. Association genetic study will be conducted to search for candidate gene defects in diabetes In vitro model for studying pathological processes in cultures or single cells will be developed.