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Journal of Medical Case Reports

, 9:269

First Online: 24 November 2015Received: 10 April 2015Accepted: 09 November 2015DOI: 10.1186-s13256-015-0765-7

Cite this article as: Takayanagi, Y., Ashida, M., Go, M. et al. J Med Case Reports 2015 9: 269. doi:10.1186-s13256-015-0765-7

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.

KeywordsAge-related macular degeneration ARMS2 gene Susceptibility gene locus AbbreviationsAMDAge-related macular degeneration

ARMS2Age-related maculopathy susceptibility 2

GWASGenome-wide association study

HTRA1High-temperature requirement factor A1

PAPatient A

PBPatient B

PCPatient C

SNPSingle nucleotide polymorphism

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Autor: Yoshinori Takayanagi - Masami Ashida - Mayumi Go - Mai Gunji - Izuru Sato - Shigeaki Kato - Masato Miyashita

Fuente: https://link.springer.com/







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