Abstract
Aim. To study a method of risk assessment neovascular age-related macular degeneration (AMD) with the genetic and clinical risk
factors.
Methods. The study included 255 patients with neovascular AMD (NVAMD) and 119 subjects in control group. Diagnosis and stages of
AMD were set as recommended by AREDS. The mean age of patients in the control group (70,8±8,2 years) was lower than in the NVAMD
group (78,1±7,6 years). All studied cases were genotyped for rs11200638 in the gene HTRA1, rs10490924 in the gene LOC387715/ARMS2,
rs1061170 in the gene CFH. Determination of polymorphisms was performed by sequencing PCR products containing data SNPs.
Results. In the NVAMD group polymorphisms rs11200638 and rs10490924 have almost complete adhesion, D'=0,96–1,00. The
differences in the distribution of alleles and genotypes of these SNPs in AMD patients and control groups were statistically significant.
The relationship of smoking and NVAMD development(OR=3,95% CI 1,7–5,3, p<0,001) has been confirmed. A statistically significant
association of CFH rs1061170 genotype and type of CNV (p=0,027) has been revealed. Individual risk for NVAMD development can be
expressed as a probability of occurrence of the event (%) or one of the categories: middle population risk (category 1, median 0,92%), high
risk (category 2, median 8,4%) and very high risk (category 3, median 47,6%).
Conclusion. Determination the individual risk of development of neovascularization, careful dynamic monitoring of patients at risk,
preventive or as much as possible early treatment ensures success in preventing complications of NVAMD.
Authors and affiliations
The Hebrew University-Hadassah Schools of Medicine and Dental Medicine, Jerusalem, Israel