title: Association of familial macular degeneration with specific genetic markers: a case report.
abstract: BACKGROUND
  Age-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.
  
  
  METHODS
  A 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: CARNAMED Eye Clinic, Sapporo S1 Building 3F, Nishi4-20-5, Minami1-jo, Chuouku, Sapporo, Hokkaido, 060-0807, Japan. takayanagi@carnamed.jp.|DAL-DNA Analysis Laboratory, Co. Ltd, Sapporo North, Building 3F, Nishi2-8-1, Kita7-jo, Kitaku, Sapporo, Hokkaido, 060-0807, Japan. takayanagi@carnamed.jp.
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Takayanagi
authors.affiliation: DAL-DNA Analysis Laboratory, Co. Ltd, Sapporo North, Building 3F, Nishi2-8-1, Kita7-jo, Kitaku, Sapporo, Hokkaido, 060-0807, Japan.
authors.forename: Masami
authors.initials: M
authors.lastname: Ashida
authors.affiliation: DAL-DNA Analysis Laboratory, Co. Ltd, Sapporo North, Building 3F, Nishi2-8-1, Kita7-jo, Kitaku, Sapporo, Hokkaido, 060-0807, Japan.
authors.forename: Mayumi
authors.initials: M
authors.lastname: Go
authors.affiliation: DAL-DNA Analysis Laboratory, Co. Ltd, Sapporo North, Building 3F, Nishi2-8-1, Kita7-jo, Kitaku, Sapporo, Hokkaido, 060-0807, Japan.
authors.forename: Mai
authors.initials: M
authors.lastname: Gunji
authors.affiliation: CARNAMED Eye Clinic, Sapporo S1 Building 3F, Nishi4-20-5, Minami1-jo, Chuouku, Sapporo, Hokkaido, 060-0807, Japan.
authors.forename: Izuru
authors.initials: I
authors.lastname: Sato
authors.affiliation: DAL-DNA Analysis Laboratory, Co. Ltd, Sapporo North, Building 3F, Nishi2-8-1, Kita7-jo, Kitaku, Sapporo, Hokkaido, 060-0807, Japan. uskato0525@gmail.com.|Research Center, Jyoban Hospital, 57 Kaminodai, Jyoban, Kamiyunagayamachi, Iwaki, Fukushima, 972-8322, Japan. uskato0525@gmail.com.
authors.forename: Shigeaki
authors.initials: S
authors.lastname: Kato
authors.affiliation: CARNAMED Eye Clinic, Sapporo S1 Building 3F, Nishi4-20-5, Minami1-jo, Chuouku, Sapporo, Hokkaido, 060-0807, Japan.|DAL-DNA Analysis Laboratory, Co. Ltd, Sapporo North, Building 3F, Nishi2-8-1, Kita7-jo, Kitaku, Sapporo, Hokkaido, 060-0807, Japan.
authors.forename: Masato
authors.initials: M
authors.lastname: Miyashita
mesh_terms: D000368:Aged; D000483:Alleles; D005260:Female; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D000074289:High-Temperature Requirement A Serine Peptidase 1; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics* / Q000503:physiopathology; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011506:Proteins / Q000378:metabolism*; D012697:Serine Endopeptidases / Q000378:metabolism*
chemical_list: C514392:ARMS2 protein, human; D005819:Genetic Markers; D011506:Proteins; D000074289:High-Temperature Requirement A Serine Peptidase 1; C474012:HTRA1 protein, human; D012697:Serine Endopeptidases