Genetic aspects of age-related macular degeneration.
Age-related macular degeneration (AMD) is a complex phenotype that has multiple causes, including genetic. This paper reviews pertinent single-gene disorders, polymorphisms in the human genome that modify disease severity, and maculopathies that provide insight into the pathogenesis of AMD and the function of the normal macula. The availability of DNA-based analysis for certain genes will likely increase the demand for genetic counselling of patients and families with AMD. Better knowledge of risks should help prevent blindness in these families.
MacDonald
Ian M
IM
Department of Ophthalmology, University of Alberta, Royal Alexandra Hospital, Edmonton, Canada. macdonal@ualberta.ca
D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D004247:DNA / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic
C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters; D004247:DNA