Artikel
Fenotype-genotype correlation in AMD
Meeting Abstract
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Veröffentlicht: | 5. Februar 2020 |
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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.