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Article

Resolving the Diagnostic Odyssey in Inherited Retinal Dystrophies Through Long-Read Genome Sequencing.

American journal of medical genetics. Part A - 1 Oct 2025

Fabian-Morales Gerardo E, Ordoñez-Labastida Vianey, Rowell William J, Lambert Christine, Fanslow Cairbre, Robertson Alexander, Zenteno Juan C

Abstract excerpt

Inherited retinal dystrophies (IRDs) inherited are visually disabling monogenic diseases with remarkable genetic and phenotypic heterogeneity. Mutations in more than 300 different genes have been identified as disease-causing. The genetic diagnosis of IRDs has significantly advanced with the integration of Next Generation Sequencing (NGS) technologies. Currently, the molecular diagnostic yield for IRDs using NGS...

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Identifiers

PMID: 40454438
DOI: 10.1002/ajmg.a.64139

Genes

USH2A
EYS
GC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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