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Article

The Extraordinary Phenotypic and Genetic Variability of Retinal and Macular Degenerations: The Relevance to Therapeutic Developments.

Cold Spring Harbor perspectives in medicine - 3 Jun 2024

Audo Isabelle, Nassisi Marco, Zeitz Christina, Sahel José-Alain

Abstract excerpt

Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of rare conditions leading to various degrees of visual handicap and to progressive blindness in more severe cases. Besides visual rehabilitation, educational, and socio-professional support, there are currently limited therapeutic options, but the approval of the first gene therapy product for RPE65-related IRDs raised hope...

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Source

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Identifiers

PMID: 37604589
DOI: 10.1101/cshperspect.a041652
PMCID: PMC11146306

Genes

RPE65

Provenance

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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