Κατεύθυνση Ανάπτυξη Νέων Φαρμάκων: Έρευνα, Κυκλοφορία και Πρόσβαση
Library of the School of Health Sciences

2022-05-18

2022

Rapti Eleni

Hλίας Κοττέας, Αναπληρωτής Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ
Μελπομένη Πέππα, Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Γεώργιος Μπάμιας, Καθηγητής, Ιατρική Σχολή, ΕΚΠΑ

Γονίδια που σχετίζονται με την εξιδρωματική ηλικιακή εκφύλιση ωχράς κηλίδας και συσχέτισή τους με την ανταπόκριση στην anti-VEGF θεραπεία

Greek

Association of genetic variants with response to anti-VEGF therapy in exudative age-related macular degeneration

Age-related macular degeneration (AMD) is a degenerative eye disease that affects patients over the age of 50 and can lead to significant loss of central vision. There are two types of AMD, non-exudative (dry) and exudative (wet). The non-exudative type is characterized by degenerations that take place in the complex of pigment epithelium - Bruch's membrane - choroid capillaries, associated with subretinal deposits, called drusen. The exudative type is characterized by the development of choroidal neovascularization. The first symptoms of patients are painless blurred vision, a blind spot in the visual field and metamorphopsia. The therapeutic approach of exudative AMD includes photodynamic therapy and especially, treatment with intravitreal injections of anti-VEGF agents. AMD is a multifactorial disease in which genetic and environmental factors are involved. Recent studies have shown substantial genetic contributions to AMD pathogenesis and have demonstrated statistically significant associations between AMD and single nucleotide polymorphisms (SNPs) of some genes. The major genes in which polymorphisms have been associated with an increased risk of developing AMD are the CFH, ARMS2, C3 and APOE (e2 isoform) genes. In addition, polymorphisms in the C2 / CFB gene and the APOE gene (e4 isoform) have been associated with protection against the risk of AMD. Recent data correlate SNPs of the above genes with the disease progression and the clinical response to anti-VEGF therapy. The effectiveness of treatment seems to vary depending on the genotype. The effect of CFH Y402H and ARMS2 polymorphism on clinical outcomes of patients treated with anti-VEGF agents has been reported by several studies, which found worse response to treatment. However, further studies are required to confirm these findings. Genetic variants could be used as predictors of treatment responsiveness in AMD patients. The detection of such genetic variants, in AMD patients, could lead to improved visual outcomes through personalized, genotype-directed therapy.

Health Sciences

Genetic, Anti-VEGF therapy, Exudative age-related macular degeneration

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Yes

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https://pergamos.lib.uoa.gr/uoa/dl/object/3217824