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Article

Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2015

Lee Kristy, Garg Seema

Abstract excerpt

Inherited eye disorders are a significant cause of vision loss. Genetic testing can be particularly helpful for patients with inherited retinal dystrophies because of genetic heterogeneity and overlapping phenotypes. The need to identify a molecular diagnosis for retinal dystrophies is particularly important in the era of developing novel gene therapy-based treatments, such as the RPE65 gene-based clinical trials...

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Identifiers

PMID: 25790163
DOI: 10.1038/gim.2015.15

Genes

RPE65

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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