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

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 role of EYS in the healthy retina are critical limitations for the translation of current technical advances into real therapeutic possibilities. This review recapitulates the present knowledge about EYS-retinopathies, their clinical presentations and proposed genotype-phenotype correlations. Molecular details of the gene and the protein, mainly based on animal model data, are analysed. The proposed cellular localisation and roles of this large multi-domain protein are detailed. Future therapeutic approaches for EYS-retinopathies are discussed.

Citation

Ana B Garcia-Delgado, Lourdes Valdes-Sanchez, Maria Jose Morillo-Sanchez, Beatriz Ponte-Zuñiga, Francisco J Diaz-Corrales, Berta de la Cerda. Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy. Orphanet journal of rare diseases. 2021 May 17;16(1):222

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PMID: 34001227

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