Evaluation of KDR gene polymorphism in patients with central serous chorioretinopathy (CSCR)

Central serous chorioretinopathy is an idiopathic ocular defect occurs in serous tissue of the macular region. Population incidance in men is six times higher than women. Growing evidence the formation of new blood vessel studies, showed that intraocular hemorrhage and fluid accumulation lead to reduced vision. Vascular endothelial growth factors (VEGFs) causes to many retinal diseases via inducing angiogenesis and leads to macular edema by increasing vascular permeabilities. The KDR (NM_002253) gene, is a VEGF receptor gene, localized at chromosome 4q11-12. Given that the VEGF gene family structure and cellular mechanisms, KDR gene mutations have been associated with central serous chorioretinopathy detachment. There has not been any genetic studies about KDR gene related with CSCR. Previous studies indicates that VEGF-A plays a crucial role in physiopathology of CSCR disease. Therefore we have identified KDR gene sequence as candidate gene and region to explain potential effects of genetic factors on CSCR. The aim of our project is to investigate the mutation spectrum in the KDR gene in patients with central serous chorioretinopathy and to determine the genotype-phenotype relationship. Exonic regions of the KDR gene were sequenced with Sanger method to 32 cases with CSCR and 32 control groups. Consequently known rs140825421 (p>0.05) and rs2305948 (p=0,3) missense mutations, rs35961234 (p>0.05) and rs77722107 (p>0.05) synonymous, rs2219471 (p=0,59) and rs2305949 (p=0,86) intronic, rs4421048 UTR mutation and one novel hetdel_TAA deletion (p>0,05) were found. Our results, were the first genetic study of KDR gene mutations causing CSCR. Emphasizes the requirement for complete screening of the mRNA sequence of KDR and VEGF-A genes for molecular diagnosis. The identification of mutations in genes of interest would also have importance in diagnosis and genetic counseling in our population.