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Projects / Programmes source: ARIS

Role of genetic factors in expression of eye diseases

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Research activity

Code Science Field Subfield
3.03.00  Medical sciences  Neurobiology   

Code Science Field
B620  Biomedical sciences  Ophtalmology 
B790  Biomedical sciences  Clinical genetics 
Keywords
retina, inherited disorders, genotype, phenotype, neurophysiology, neuromodulators, cataract
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 (12)
no. Code Name and surname Research area Role Period No. of publications
1.  04409  PhD Jelka Brecelj  Neurobiology  Researcher  1999  347 
2.  09154  PhD Marko Hawlina  Neurobiology  Head  1997 - 1999  629 
3.  11537  PhD Polonca Jaki Mekjavič  Medical sciences  Researcher  1997 - 1999  379 
4.  05302  PhD Gorazd Kolar  Neurobiology  Researcher  1997 - 1999  55 
5.  17667  Blaž Konec    Researcher  1997 - 1999  7 
6.  09155  MSc Aleksandra Kraut  Neurobiology  Researcher  1997 - 1999  181 
7.  18630  MSc Katrina Novak Andrejčič  Neurobiology  Researcher  1997 - 1999  69 
8.  10458  PhD Borut Peterlin  Human reproduction  Researcher  1997 - 1999  854 
9.  05984  PhD Marija Pfeifer  Metabolic and hormonal disorders  Researcher  1997 - 1999  381 
10.  18629  Vladimir Pfeifer  Neurobiology  Researcher  1997 - 1999  283 
11.  09156  PhD Branka Stirn Kranjc  Neurobiology  Researcher  1997 - 1999  386 
12.  17675  Tatjana Vidmar    Researcher  1998 - 1999  3 
Organisations (1)
no. Code Research organisation City Registration number No. of publications
1.  0312  University Medical Centre Ljubljana  Ljubljana  5057272000  77,480 
Abstract
Retinal function in inherited retinal disorders will be followed by clinical tests and neurophysiological methods. Using the methods of molecular genetics, polymorphisms will be searched in genes for rhodopsin, dopamine and melatonin, and possible mutations will be looked-for. Phenotypical characteristics will be correlated with determined genetic defect. Effects of exogenous dopamine agonists will be determined in patients with healthy and genetically affected retinas using psychophysical and electrophysiological methods. Systematic registration and clinical evaluation of Retinitis pigmentosa patients in Slovenia will be done and mode of inheritance and genetic typisation will be determined. Method of phacoemulsification for cataract extraction will be evaluated in RP patients.
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