A Practical Approach to Retinal Dystrophies.

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

Journal: Advances in experimental medicine and biology 2025;1467():287-304

PMID: 40736857

Abstract

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.

Address: Department of Ophthalmology, Columbia University, New York, NY, USA.; Department of Ophthalmology, University of California-Los Angeles, Los Angeles, CA, USA.; Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.; Department of Pathology and Cell Biology, Herbert Irving Comprehensive Cancer Center, Columbia University Medical Center, New York, NY, USA.; Department of Ophthalmology, Columbia University, New York, NY, USA. [email protected].

DOI: 10.1007/978-3-031-72230-1_55

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https://medlineplus.gov/genesandgenetherapy.html

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Full Text Sources:

https://dx.doi.org/10.1007/978-3-031-72230-1_55

MeSH Terms: Humans, Genetic Therapy, Retinal Dystrophies, cis-trans-Isomerases, Mutation