| Abstract [eng] |
Inherited retinal dystrophies (IRD) is a vast group of genetically determined diseases characterized by significant both clinical and genetic heterogeneity. IRD differ in their heredity, character of visual impairment and ocular fundus findings. To date more than 190 genes are known and alterations in more than 40 gene areas are identified responsible for the IRD. The aim of the research was to evaluate the clinical and genetic characteristics of inherited retinal dystrophies in Lithuanian patient group. One hundred and nineteen subjects met the inclusion criteria, 13 different IRD were identified clinically, and in 16.8% of subjects’ pathogenic changes confirming molecular diagnosis of IRD were found. In the group of subjects with X-linked juvenile retinoschisis 2 new alterations of RS1 gene were identified. Biostatistical analysis showed statistically significant correlations between different phenotype characteristics and single nucleotide polymorphisms in the largest subject group of retinitis pigmentosa. During this study, visual electrophysiology tests were implemented into clinical practice, and one of them, multifocal electroretinography, was applied in Lithuania for the first time. This study was the first research conducted in Lithuania allowing identify, analyze, group, perform genetical testing and assess genotype-phenotype correlations of IRD. |
