Age-related macular degeneration (AMD) is a clinically heterogeneous disease that causes visual impairment among the elderly in different populations. Variants in the hypothetical LOC387715 gene have been reported to be associated with AMD. The purpose of this study was to investigate the association of reported common single-nucleotide polymorphisms (SNP) in LOC387715 with AMD in an Iranian population.

We studied 110 unrelated patients who were examined in Gonabad hospital by two ophthalmologists during 18 month period. In this study we investigated 37 patients with dry AMD (21 patients with soft drusen, 14 patients with geographic atrophy) and 73 matched control subjects. A polymorphism in LOC387715 (A69S) was genotyped using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP).

Genetic and environmental risk factors appear to trigger the AMD disease. Although in comparison of AMD patients with control subjects no significant association of LOC387715 polymorphism was observed, there was a significant association between two groups of patients with specific features (geographic atrophy and drusen).

This study suggests that GG genotype could be a great risk factor for developing geographic atrophy and GT genotype is a risk factor in development of drusen among AMD patients in our cohort.