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Genomic approaches to developing new diagnostic and therapeutic strategies in retinal dystrophies are among the most advanced applications of genetics (Tsang and Gouras 1996). The notion that “nothing can be done” for patients with retinal dystrophies is no longer true. Electrophysiological testing and autofluorescence imaging help to diagnose and predict the patient’s course of disease. Better phenotyping can contribute to better-directed, cost-efficient genotyping. Combining fundoscopy, autofluorescent imaging, and electrophysiological testing is essential in approaching patients with retinal dystrophies. The first FDA-approved gene therapy, Voretigene Neparvovec (VN, Luxturna•, Spark Therapeutics, Philadelphia, PA), is now available for eyes with AR RP and LCA with biallelic RPE65 mutation. Emerging are more new gene-based treatments for these devastating retinal dystrophies.

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A Practical Approach to Retinal Dystrophies

  • 章节

  • 发表日期：

    2025年

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  • Ahmet Hondur,
  • Irena Tsui,
  • Brian J. Song,
  • Chyuan-Sheng Lin,
  • Stephen Tsang,
  • Tarun Sharma,
  • Vlad Diaconita

摘要

Genomic approaches to developing new diagnostic and therapeutic strategies in retinal dystrophies are among the most advanced applications of genetics (Tsang and Gouras 1996). The notion that “nothing can be done” for patients with retinal dystrophies is no longer true. Electrophysiological testing and autofluorescence imaging help to diagnose and predict the patient’s course of disease. Better phenotyping can contribute to better-directed, cost-efficient genotyping. Combining fundoscopy, autofluorescent imaging, and electrophysiological testing is essential in approaching patients with retinal dystrophies. The first FDA-approved gene therapy, Voretigene Neparvovec (VN, Luxturna•, Spark Therapeutics, Philadelphia, PA), is now available for eyes with AR RP and LCA with biallelic RPE65 mutation. Emerging are more new gene-based treatments for these devastating retinal dystrophies.