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Familial cases with age-related macular degeneration
A Yoshida1, M Yoshida, S Yoshida
1Department of Ophthalmology, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
Background:
The pathogenesis of age-related macular degeneration (AMD) remains unknown. Genetic and environmental factors are thought to be associated with AMD. Although some studies have reported familial cases of AMD in the United States, as far as we know, familial cases of AMD have rarely been reported in Japan.
Cases:
We describe three families with two members of each family affected with AMD and one family with three affected members.
Observations:
In one family, two siblings were affected with AMD with choroidal neovascularization and two other siblings had retinal pigment epithelial abnormalities or drusen of the maculas, suggesting the heterogeneity of the maculas in the family. However, the other families did not show such heterogeneity of the fundus. Among the four families, six of nine affected individuals had a smoking habit, a risk factor for AMD.
Conclusions:
These findings suggest that the development and progression of AMD might be associated with genetic factors and environmental factors.
Insights
Familial cases of age-related macular degeneration (AMD) were identified in Japan, suggesting both genetic and environmental factors contribute to AMD development and progression.
Area of Science:
- Ophthalmology
- Genetics
- Environmental Health
Background:
- The exact causes of age-related macular degeneration (AMD) are not fully understood.
- While genetic and environmental influences are suspected, familial AMD cases are rarely documented in Japan.
Observation:
- This study details four Japanese families with multiple affected members, including three families with two affected individuals and one with three.
- One family exhibited intrafamilial heterogeneity in macular presentation, while others did not.
- A significant proportion (6/9) of affected individuals reported a history of smoking, a known AMD risk factor.
Findings:
- The study identified familial AMD cases in Japan, a population with limited prior reports.
- Observations suggest potential genetic predispositions combined with environmental factors like smoking in AMD pathogenesis.
Implications:
- These findings highlight the importance of considering both genetic and environmental factors in the development and progression of age-related macular degeneration.
- Further research into the genetic and environmental interplay in AMD is warranted, particularly within the Japanese population.