Association of familial macular degeneration with specific genetic markers: a case report.
J Med Case Rep
; 9: 269, 2015 Nov 24.
Article
in En
| MEDLINE
| ID: mdl-26597887
ABSTRACT
INTRODUCTION:
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. CASE PRESENTATION 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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Serine Endopeptidases
/
Proteins
/
Genetic Predisposition to Disease
/
Polymorphism, Single Nucleotide
/
Macular Degeneration
Type of study:
Prognostic_studies
/
Risk_factors_studies
Limits:
Aged
/
Female
/
Humans
Language:
En
Journal:
J Med Case Rep
Year:
2015
Document type:
Article
Affiliation country:
Japón