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

Overview of attention for article published in Journal of Medical Case Reports, November 2015
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Title
Association of familial macular degeneration with specific genetic markers: a case report
Published in
Journal of Medical Case Reports, November 2015
DOI 10.1186/s13256-015-0765-7
Pubmed ID
Authors

Yoshinori Takayanagi, Masami Ashida, Mayumi Go, Mai Gunji, Izuru Sato, Shigeaki Kato, Masato Miyashita

Abstract

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.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Japan 1 7%
Unknown 14 93%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 3 20%
Other 2 13%
Student > Ph. D. Student 2 13%
Student > Doctoral Student 1 7%
Librarian 1 7%
Other 1 7%
Unknown 5 33%
Readers by discipline Count As %
Agricultural and Biological Sciences 3 20%
Medicine and Dentistry 3 20%
Biochemistry, Genetics and Molecular Biology 1 7%
Immunology and Microbiology 1 7%
Computer Science 1 7%
Other 2 13%
Unknown 4 27%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 27 November 2015.
All research outputs
#18,431,664
of 22,834,308 outputs
Outputs from Journal of Medical Case Reports
#2,257
of 3,920 outputs
Outputs of similar age
#278,914
of 386,693 outputs
Outputs of similar age from Journal of Medical Case Reports
#17
of 34 outputs
Altmetric has tracked 22,834,308 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,920 research outputs from this source. They receive a mean Attention Score of 3.9. This one is in the 11th percentile – i.e., 11% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 386,693 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 16th percentile – i.e., 16% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 34 others from the same source and published within six weeks on either side of this one. This one is in the 35th percentile – i.e., 35% of its contemporaries scored the same or lower than it.