Heredity and Age-Related Macular Degeneration: Observations in Monozygotic Twins
Abstract
OBJECTIVE: To determine the concordance of age-related macular degenerative changes in monozygotic twins. PATIENTS: Between 1984 and 1993, we examined a total of nine pairs of monozygotic twins with substantial age-related macular degenerative changes in at least one member of the pair, ranging from extensive large drusen to advanced atrophic and/or disciform scarring. Eight pairs were female and one pair was male. Ages ranged from 62 to 88 years. Monozygosity was confirmed by genetic testing in each of the seven twin pairs on whom it was performed. RESULTS: In eight of the nine twin pairs, the fundus appearance and the incidence of visual impairment were similar. In the ninth pair, one twin had advanced exudative age-related macular degeneration with vision loss in one eye, while the other had large, confluent drusen and good visual function in both eyes. Environmental factor, including diet, geographic background, and medical history, were essentially similar in the twin pairs. CONCLUSION: Although selection factors and similar environmental influences might impact our findings, the markedly similar incidence of macular degenerative changes in these monozygotic twins suggests that a substantial genetic component may exist in a potentially large proportion of patients with age-related macular degeneration. Further studies are warranted to define this hereditary influence.
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The contribution of genetics to AMD was documented throughout the 1990s with reports of familial aggregation, concordant phenotypes in twins, and a higher risk of disease in first-degree relatives of affected individuals.
“The contribution of genetics to AMD was carefully documented throughout the 1990s with reports of familial aggregation, concordant phenotypes in twins, and a higher risk of disease in first-degree relatives of affected individuals (69, 89, 91, 132).”
From Unraveling a Multifactorial Late-Onset Disease: From Genetic Susceptibility to Disease Mechanisms for Age-Related Macular Degeneration (2009) · cites this paper as [91]
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- Authors
- Klein, M. L.
- Affiliations
- Oregon Health & Science University (US)
- Corresponding author
- Klein, Michael L.
- Venue
- Archives of Ophthalmology
- Publisher
- American Medical Association (AMA)
- Published
- 1994-07-01
- Volume
- 112
- Issue
- 7
- Pages
- 932
- ISSN
- 0003-9950 (ISSN-L)
- OpenAlex
- W2090265886
- Cited by
- 207
- References
- 32
- Citations by year
- 2026: 1 · 2024: 1 · 2023: 2 · 2022: 5 · 2021: 2 · 2020: 1 · 2019: 3 · 2018: 2 · 2017: 3 · 2016: 5 · 2015: 3 · 2014: 9 · 2013: 6 · 2012: 8
- FWCI
- 8.63
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Archives of Ophthalmology (publishedVersion)
- PubMed (publishedVersion)
- 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, heredity (biology), monozygotic twins, genetic concordance, drusen, atrophic macular degeneration, neovascular age-related macular degeneration, visual impairment, genetic susceptibility
- MeSH terms
- Aged, Aged, 80 and over, Diseases in Twins, Female, Fluorescein Angiography, Fundus Oculi, Humans, Macular Degeneration, Male, Middle Aged, Twins, Monozygotic, Vision Disorders, Visual Acuity, Incidence
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