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Projects / Programmes source: ARIS

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

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Research activity

Code Science Field Subfield
3.03.00  Medical sciences  Neurobiology   
Keywords
retinal dystrophies, diabetic retinopathy, genotype, phenotype
Evaluation (rules)
source: COBISS
Evaluation of bibliographic research performance indicators according to ARIS methodology
Citations Citations for bibliographic records in COBIB.SI that are linked to records in citation databases
source: WoS source: Scopus source: COBISS
Researchers (18)
no. Code Name and surname Research area Role Period No. of publications
1.  04409  PhD Jelka Brecelj  Neurobiology  Researcher  2000 - 2002  347 
2.  21069  PhD Barbara Cvenkel  Medical sciences  Researcher  2000 - 2002  239 
3.  20707  PhD Mojca Globočnik Petrovič  Neurobiology  Researcher  2000 - 2002  260 
4.  09154  PhD Marko Hawlina  Neurobiology  Head  2000 - 2002  631 
5.  11537  PhD Polonca Jaki Mekjavič  Medical sciences  Researcher  2000 - 2002  380 
6.  16364  PhD Martina Jarc - Vidmar  Neurobiology  Researcher  2000 - 2002  202 
7.  17667  Blaž Konec    Researcher  2000 - 2002  7 
8.  09155  MSc Aleksandra Kraut  Neurobiology  Researcher  2000 - 2002  181 
9.  18630  MSc Katrina Novak Andrejčič  Neurobiology  Researcher  2000 - 2002  69 
10.  10458  PhD Borut Peterlin  Human reproduction  Researcher  2000 - 2002  872 
11.  05984  PhD Marija Pfeifer  Metabolic and hormonal disorders  Researcher  2000 - 2002  383 
12.  18629  Vladimir Pfeifer  Neurobiology  Researcher  2000 - 2002  285 
13.  18375  PhD Petra Popović  Neurobiology  Researcher  2000 - 2002  58 
14.  09156  PhD Branka Stirn Kranjc  Neurobiology  Researcher  2000 - 2002  386 
15.  13675  PhD Mirna Štabuc Šilih  Medical sciences  Researcher  2000 - 2002  83 
16.  18468  Ljuba Taljat    Researcher  2000 - 2002  1 
17.  17675  Tatjana Vidmar    Researcher  2000 - 2002  3 
18.  20708  PhD Nataša Vidovič Valentinčič  Neurobiology  Researcher  2000 - 2002  220 
Organisations (1)
no. Code Research organisation City Registration number No. of publications
1.  0312  University Medical Centre Ljubljana  Ljubljana  5057272000  78,536 
Abstract
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.
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