Age-related macular degeneration by Professor Dr. Frank G. Holz, Professor Dr. Daniel

By Professor Dr. Frank G. Holz, Professor Dr. Daniel Pauleikhoff, MD Richard F. Spaide, Professor Alan C. Bird (auth.)

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Cell 98:13-23 Yoshida A. Yoshida M. Yoshida S. Shiose S. Jpn J OphthalmoI44:290-295 3 Frank G. Holz, Florian Schlitt, Daniel Pauleikhoff, Alan C. 5 Macular vs Peripheral Retina - 32 - 32 - 41 - 42 References - 44 - 42 - 43 - 44 - 43 32 Chapter 3 . Pathophysiology In every human eye various alterations occur with age at the level of the outer retina, the retinal pigment epithelium (RPE), Bruch's membrane and the choroid. Several of these changes are thought to contribute to the pathogenesis of age-related macular degeneration (AMD), and are influenced by genetically and exogenous factors in this complex multifactorial disease (see (hap.

Acta Ophthalmol 68:S358 Vinding T et al. (1992) Risk factor analysis for atrophic and exudative age-related macular degeneration. An epidemiological study of 1000 aged individuals. Acta Ophthalmol 70:66-72 22 Chapter 1 •Epidemiology of Age-Related Maculopathy: A Review Vingerling JR et al. (1995a) The prevalence of age-related maculopathy in the Rotterdam Study [see commentsl. Ophthalmology 102:205-210 Vingerling JR et al. (1995b) Macular degeneration and early menopause: a case-control study. BMJ 310:1570-1571 Vingerling JR et al.

1999). 2 By definition, a complex trait such as AMD is influenced by many environmental and genetic components, some of which may exert only modest effects towards disease susceptibility. This has led many investigators to suggest a multistrategy approach to facilitate the identification of the attributable factors. To date, common strategies for deciphering the predisposing components include the survey of genes that underlie single gene disorders phenotypically similar to AMD, the direct mapping of specific genetic regions coupled to the AMD phenotype by applying linkage analyses and association studies, and the assessment of genes involved in biochemical pathways that may possibly be relevant to disease pathology.

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