Genotype-Phenotype Correlations and Genetic Risk Assessment in Age-Related Macular Degeneration.

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Tác giả: Itay Chowers, Sarah Elbaz-Hayoun, Michelle Grunin, Shlomit Jaskoll, Adi Kramer, Batya Rinsky, Yahel Shwartz, Liran Tiosano, Brice Nguedia Vofo

Ngôn ngữ: eng

Ký hiệu phân loại: 636.0885 Animal husbandry

Thông tin xuất bản: United States : Advances in experimental medicine and biology , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 50011

Age-related macular degeneration (AMD), the leading cause of irreversible vision loss in the elderly, presents researchers and clinicians with a complex challenge due to its multifaceted etiology and phenotype. The difficulty in developing effective treatments, especially for atrophic AMD, is an ongoing concern. Genetics plays a significant role in AMD's pathogenesis, with 52 variants in 34 loci linked to AMD based on a genome-wide association study. The association of genetic burden to the phenotypic and progression features of AMD is a current focus in the field. This perspective presents available information on phenotype-genotype correlations in AMD and on future directions in AMD genetic research which may be further corroborated with specific phenotypes and progression patterns to eventually develop personalized follow-up and therapeutic strategies.
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