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Cited by 84Retinal Diseases and TreatmentsRetinal Imaging and AnalysisRetinal Development and Disorders

Age-related macular degeneration: The importance of family history as a risk factor

Shahid, Humma, Khan, Jane C, Cipriani, Valentina, Sepp, Tiina, Matharu, Baljinder K, Bunce, Catey, Harding, Simon P, Clayton, David G +3 more·2012·British Journal of Ophthalmology
DOI 10.1136/bjophthalmol-2011-300193
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Abstract

BACKGROUND: Family history is considered a risk factor for age-related macular degeneration (AMD). With the advent of effective therapy for the disease, the importance of family history merits further investigation. This study quantifies the risk associated with family history, first, by a case-control study of reported family history and, second, by examining the siblings of AMD cases. METHODS: The authors recruited cases with advanced AMD, spouses and siblings. All subjects were carefully phenotyped. Clinical findings in the siblings were compared with spouses. Information about family history was collected. The ORs for reported family history of AMD were calculated. Analyses were adjusted for age, smoking and genotype. RESULTS: 495 AMD cases, 259 spouses and 171 siblings were recruited. The OR for AMD was 27.8 (CI 3.8 to 203.0; p=0.001) with a reported family history of an affected parent and 12.0 (CI 3.7 to 38.6; p<0.0001) with a history of an affected sibling. ORs adjusted for age and smoking were higher. Examination of siblings confirmed their increased risk with 23% affected by AMD and an OR of 10.8 (4.5 to 25.8; p<0.0001). Adjusting for age increased the OR to 16.1 (6.2 to 41.8). CONCLUSION: The risk of AMD is greatly increased by having an affected first-degree relative. Those at risk need to be made aware of this and AMD patients should advise siblings and children to seek prompt ophthalmological advice if they develop visual symptoms of distortion or reduced vision.

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Authors
Shahid, H., Khan, J. C., Cipriani, V., Sepp, T., Matharu, B. K., Bunce, C., Harding, S. P., Clayton, D. G., Moore, A. T., Yates, J. R. W., & for the Genetic Factors in AMD Study Group
Affiliations
  • University of Cambridge (GB)
  • Moorfields Eye Hospital NHS Foundation Trust (GB)
  • University of Liverpool (GB)
Corresponding author
Shahid, Humma
ORCID
Venue
British Journal of Ophthalmology
Publisher
BMJ
Published
2011-08-23
Volume
96
Issue
3
Pages
427-431
ISSN
  • 0007-1161 (ISSN-L)
  • 1468-2079
DOI
10.1136/bjophthalmol-2011-300193
OpenAlex
W2096141126
Cited by
84
References
24
Citations by year
2026: 2 · 2025: 4 · 2024: 5 · 2023: 8 · 2022: 6 · 2021: 7 · 2020: 11 · 2019: 7 · 2018: 4 · 2017: 6 · 2016: 6 · 2015: 2 · 2014: 8 · 2013: 5 · 2012: 2
FWCI
4.79
Type
journal article
Language
en
Open access
closed
Locations
  • British Journal of Ophthalmology (publishedVersion)
  • PubMed (publishedVersion)
  • Research Explorer (The University of Manchester) (submittedVersion)
  • UCL Discovery (University College London) (submittedVersion)
  • HighWire Press Open Archive (submittedVersion)
Funders
  • Wellcome Trust
  • National Institute for Health and Care Research
  • Moorfields Eye Hospital NHS Foundation Trust
  • Medical Research Council
Topics
  • Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
  • Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Retinal Imaging and Analysis
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
Keywords
age-related macular degeneration, family history (medicine), genetic risk factors, first-degree relatives, siblings, spouses, heritability, advanced AMD, smoking, visual distortion
MeSH terms
Aged, Complement C3, Family Health, Female, Genotype, Humans, Macular Degeneration, Male, Complement Factor B, Proteins, Surveys and Questionnaires, Risk Factors, Sibling Relations, Vision Disorders, Prevalence, Odds Ratio, Case-Control Studies, Complement Factor H, Polymorphism, Single Nucleotide

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