Scholarlink

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.

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

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

  • 会议论文

  • 发表日期：

    2025年

查看全文
  • Shlomit Jaskoll,
  • Adi Kramer,
  • Sarah Elbaz-Hayoun,
  • Batya Rinsky,
  • Michelle Grunin,
  • Liran Tiosano,
  • Brice Nguedia Vofo,
  • Yahel Shwartz,
  • Itay Chowers

摘要

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.