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Article

A Practical Approach to Retinal Dystrophies.

Advances in experimental medicine and biology - 1 Jan 2025

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

Abstract excerpt

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...

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PMID: 40736857
DOI: 10.1007/978-3-031-72230-1_55

Genes

AR
RPE65

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 12 Sept 2026.

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