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7th International Symposium on AMD: Age-related Macular Degeneration – Understanding Pathogenetic Mechanisms of Disease

20.09. - 21.09.2019, Baden-Baden

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Fenotype-genotype correlation in AMD

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  • Carel B. Hoyng - Nijmegen/NL

7th International Symposium on AMD: Age-related Macular Degeneration - Understanding Pathogenetic Mechanisms of Disease. Baden-Baden, 20.-21.09.2019. Düsseldorf: German Medical Science GMS Publishing House; 2020. Doc19amd07

doi: 10.3205/19amd07, urn:nbn:de:0183-19amd075

Published: February 5, 2020

© 2020 Hoyng.
This is an Open Access article distributed under the terms of the Creative Commons Attribution 4.0 License. See license information at http://creativecommons.org/licenses/by/4.0/.

Outline

Text

Fenotype-genotype correlation in AMD is of increasing importance.

1.
Certain fenotypes correlate with a higher incidence of so-called ‘rare variants’. These are mutations in risk genes (especially CFH and CFI). With emerging gene therapy trials it is important to recognize these fenotypes. Furthermore, these fenotypes have a higher incidence within families.
2.
Certain fenotypes are correlated with a faster progression of AMD
3.
Still a reasonable number of monogenetic diseases, especially caused by mutations in the PRPH2 or ABCA4 gene are diagnosed as dry AMD (up to 5% of dry AMD cohorts). Their progression and familial involvement is different from AMD and with several upcoming therapies for dry AMD, but alsof or monogenetic diseases they should be recognized seperated from each other.