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Age-related macular degeneration (AMD) is one of the most common causes of blindness in developed world countries. It mainly affects the elderly. The incidence of the disease is only slightly below that of cancer and cardiovascular diseases. This study aimed to determine the association of RP1L1 single nucleotide polymorphism and serum RP1L1 levels with the onset of the early AMD. The aim of this study was to determine the association of RP1L1 single nucleotide polymorphism with the onset of the early age-related macular degeneration (AMD). The study examined 615 subjects: 309 with a diagnosis of the early AMD and 306 healthy controls. Samples of DNA from peripheral blood leukocytes were extracted by the DNA salting-out method. Genotyping was carried out by the real-time polymerase chain reaction. Serum levels of RP1L1 protein were evaluated using an ELISA kit. The results were assessed using the statistical analysis method of “IBM SPSS Statistics 23.0“. We have found that the RP1L1 rs3924612 C/G genotype increases the odds of the early AMD development in females (p &lt;.05/2). Also, we found that RP1L1 rs3924612 C/G and G/G genotypes increase the odds of the early AMD in the age group of 56–68 years (p &lt; .05/2). Serum RP1L1 levels were evaluated in study groups but no statistically significant associations were found. Based on these results we concluded that  RP1L1  rs3924612 polymorphism was associated with the early AMD development, but not with the RP1L1 level changes

RP1L1 rs3924612 gene polymorphism and RP1L1 protein associations among patients with early age-related macular degeneration