gms | German Medical Science

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

20.09. - 21.09.2019, Baden-Baden

Fenotype-genotype correlation in AMD

Meeting Abstract

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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

Veröffentlicht: 5. Februar 2020

© 2020 Hoyng.
Dieser Artikel ist ein Open-Access-Artikel und steht unter den Lizenzbedingungen der Creative Commons Attribution 4.0 License (Namensnennung). Lizenz-Angaben siehe http://creativecommons.org/licenses/by/4.0/.


Gliederung

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.