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Article

Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy.

Orphanet journal of rare diseases - 17 May 2021

Garcia-Delgado Ana B, Valdes-Sanchez Lourdes, Morillo-Sanchez Maria Jose, Ponte-Zuñiga Beatriz, Diaz-Corrales Francisco J, de la Cerda Berta

Abstract excerpt

Mutations in the EYS gene are one of the major causes of autosomal recessive retinitis pigmentosa. EYS-retinopathy presents a severe clinical phenotype, and patients currently have no therapeutic options. The progress in personalised medicine and gene and cell therapies hold promise for treating this degenerative disease. However, lack of understanding and incomplete comprehension of disease's mechanism and the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34001227
DOI: 10.1186/s13023-021-01843-z
PMCID: PMC8127272

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy.PMID 34001227Read ↗

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