SCIENCE@home

From Genes, Proteins, and Clinical Manifestation: Why Do We Need to Better Understand Age-Related Macular Degeneration?

S. Schmitz-Valckenberg,M. Zouache,G. Hageman,M. Fleckenstein

Published 2022 in Ophthalmology Science

ABSTRACT

The term age-related macular degeneration (AMD) was introduced in 1984. 1 Before this, terms such as senile (disciform) macular degeneration , disciform degeneration , involutional macular degeneration , senile amblyopia , and Kuhnt-Junius macular degeneration were used. 2 Clinicians quickly adopted the term AMD and have applied it all too frequently, going as far as using it to describe any degeneration of the macula in individuals older than 50 to 60 years, provided that no other distinctive cause is evident. Determining the causes of a broadly de fi ned multifactorial disease without attempting to further classify its clinical manifestations is a far too simplistic approach and has likely hampered progress in AMD research. 3 It has now been > 15 years since 2 major genetic risk loci were shown to be associated with risk of AMD developing, one in the CFH-CFHR5 region on chromosome 1q32 and the other in the ARMS2/HTRA1 locus on chromosome 10q26. Yet, the importance of genetic risk factors in the clinical manifestations and progression of AMD are largely ignored. 4 e 9 The consequences of this are far reaching, particularly in clinical trials aiming to investi-gate innovative therapies for the different forms of AMD. This lack of consideration for the genetic structure of AMD is increasingly dif cult to explain as more research results point toward a de nitive impact of genetic risk pro fi les on the molecular mechanisms, manifestation, and risk of progression of this blinding disease. 10 e 13 In this issue of Ophthalmology Science , Kato et al 14 present their results after assessment of the association of complement activation products in the aqueous

PUBLICATION RECORD

CITATION MAP

EXTRACTION MAP

CLAIMS

  • No claims are published for this paper.

CONCEPTS

  • No concepts are published for this paper.

REFERENCES

Showing 1-21 of 21 references · Page 1 of 1

CITED BY

  • No citing papers are available for this paper.

Showing 0-0 of 0 citing papers · Page 1 of 1