What can we learn about age-related macular degeneration from other retinal diseases?
Age-related macular degeneration (AMD) is increasingly recognized as a complex genetic disorder in which one or more genes contribute to an individual's susceptibility for developing the condition. Twin and family studies as well as population-based genetic epidemiologic methods have convincingly demonstrated the importance of genetics in AMD, though the extent of heritability, the number of genes involved, and the phenotypic and genetic heterogeneity of the condition remain unresolved. The extent to which other hereditary macular dystrophies such as Stargardts disease, familial radial drusen (malattia leventinese), Best's disease, and peripherin/RDS-related dystrophy are related to AMD remains unclear. Alzheimer's disease, another late onset, heterogeneous degenerative disorder of the central nervous system, offers a valuable model for identifying the issues that confront AMD genetics.
Zack
D J
DJ
Departments of Ophthalmology, Molecular Biology and Genetics, and Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA. dzack@bs.jhmi.edu
Dean
M
M
Molday
R S
RS
Nathans
J
J
Redmond
T M
TM
Stone
E M
EM
Swaroop
A
A
Valle
D
D
Weber
B H
BH
D018528:ATP-Binding Cassette Transporters / Q000235:genetics / Q000378:metabolism; D000818:Animals; D005801:Genes, Homeobox; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D051379:Mice; D009154:Mutation; D010786:Photoreceptor Cells / Q000378:metabolism; D010857:Pigment Epithelium of Eye / Q000378:metabolism; D012162:Retinal Degeneration / Q000235:genetics / Q000378:metabolism; D012164:Retinal Diseases / Q000235:genetics*
C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters; C512841:Abca4 protein, mouse