Garcia-Delgado, Ana B.Valdes-Sanchez, LourdesMorillo-Sanchez, Maria JosePonte-Zuñiga, BeatrizDiaz-Corrales, Francisco J.de la Cerda, Berta2022-09-212022-09-212021-05-17Garcia-Delgado AB, Valdes-Sanchez L, Morillo-Sanchez MJ, Ponte-Zuñiga B, Diaz-Corrales FJ, de la Cerda B. Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy. Orphanet J Rare Dis. 2021 May 17;16(1):222.http://hdl.handle.net/10668/4094Mutations 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.enAtribución 4.0 Internacionalhttp://creativecommons.org/licenses/by/4.0/Retinal dystrophyEYSCiliopathyAnimal modelsAdvanced therapiesMutationsRetinal degenerationRetinitis pigmentosaDistrofias retinianasCiliopatíasModelos animalesMutaciónDegeneración retinianaMedical Subject Headings::Organisms::Eukaryota::AnimalsMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Sequence Analysis::Sequence Analysis, DNA::DNA Mutational AnalysisMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Diagnostic Techniques and Procedures::Diagnostic Techniques, Ophthalmological::ElectroretinographyMedical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Eye ProteinsMedical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::HumansMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::MutationMedical Subject Headings::Diseases::Eye Diseases::Retinal Diseases::Retinal DegenerationMedical Subject Headings::Diseases::Eye Diseases::Eye Diseases, Hereditary::Retinitis PigmentosaMedical Subject Headings::Psychiatry and Psychology::Psychological Phenomena and Processes::Mental Processes::Cognition::ComprehensionMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::PhenotypeMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Association StudiesMedical Subject Headings::Anatomy::Sense Organs::Eye::RetinaMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Models, Animalreview article34001227open access10.1186/s13023-021-01843-z1750-1172PMC8127272