Association of familial macular degeneration with specific genetic markers: a case report

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. A 73-year-old Asian woman developed a...

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Bibliographic Details
Published in:Journal of medical case reports 2015-11, Vol.9 (236), p.269-269, Article 269
Main Authors: Takayanagi, Yoshinori, Ashida, Masami, Go, Mayumi, Gunji, Mai, Sato, Izuru, Kato, Shigeaki, Miyashita, Masato
Format: Article
Language:English
Subjects:
Age
Aged
Alleles
Care and treatment
Case Report
Case studies
Development and progression
Familial diseases
Female
Gene loci
Genetic Markers
Genetic Predisposition to Disease - genetics
Genomes
Genotype
High-Temperature Requirement A Serine Peptidase 1
Humans
Macular degeneration
Macular Degeneration - genetics
Macular Degeneration - physiopathology
Patients
Polymorphism, Single Nucleotide - genetics
Proteins - metabolism
Serine Endopeptidases - metabolism
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Summary: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. 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. 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.
ISSN:1752-1947
1752-1947
DOI:10.1186/s13256-015-0765-7