Abstract
IntroductionAge-related macular degeneration is a serious visual disorder of the central retina and was recently reported to be associated with genetic background. Here we describe a genetic link to early onset age-related macular degeneration in members of an Asian family.Case presentationA 73-year-old Asian woman developed age-related macular degeneration in the fifth decade of her life and her 49-year-old daughter developed age-related macular degeneration. Because of the family history and the early onset, family members were tested for two single nucleotide polymorphism variants (rs10490924 and rs11200638) at a recently identified susceptibility locus for age-related macular degeneration. Both alleles in the 73-year-old woman were of the high-risk variants (T/T for rs10490924 and A/A for rs11200638), and her two daughters and a grandson each carried the risk variants (T and A) one on each allele.ConclusionsIn a case where multiple family members had early onset age-related macular degeneration, we found two high-risk single nucleotide polymorphism variants in the age-related macular degeneration susceptibility locus, suggesting the combination of the known single nucleotide polymorphism variants as a potent age-related macular degeneration diagnostic indicator.
Highlights
Age-related macular degeneration is a serious visual disorder of the central retina and was recently reported to be associated with genetic background
In a case where multiple family members had early onset age-related macular degeneration, we found two high-risk single nucleotide polymorphism variants in the age-related macular degeneration susceptibility locus, suggesting the combination of the known single nucleotide polymorphism variants as a potent age-related macular degeneration diagnostic indicator
Recent genetic association studies have been successful in identifying several Age-related macular degeneration (AMD) riskassociated single nucleotide polymorphism (SNP) variants, and the SNP variants are specific to AMD type, reflecting different genetic backgrounds among races
Summary
An Asian family with early onset AMD bore the known high-risk SNP variants in both ARMS2 and HTRA1; the presence of both SNPs could be an indicator for early onset AMD. 7. Yang Z, Camp NJ, Sun H, Tong Z, Gibbs D, Cameron DJ, et al A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. 9. Fritsche LG, Loenhardt T, Janssen A, Fisher SA, Rivera A, Keilhauer CN, et al Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. Arakawa S, Takahashi A, Ashikawa K, Hosono N, Aoi T, Yasuda M, et al Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population. Tamura H, Tsujikawa A, Yamashiro K, Akagi-Kurashige Y, Nakata I, Nakanishi H, et al Association of ARMS2 genotype with bilateral involvement of exudative age-related macular degeneration. Efficacy and safety of widely used treatments for macular oedema secondary to retinal vein occlusion: a systematic review.
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