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 thi...

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Bibliographic Details
Published in:Orphanet journal of rare diseases 2021-05, Vol.16 (1), p.222-222, Article 222
Main Authors: Garcia-Delgado, Ana B, Valdes-Sanchez, Lourdes, Morillo-Sanchez, Maria Jose, Ponte-Zuñiga, Beatriz, Diaz-Corrales, Francisco J, de la Cerda, Berta
Format: Article
Language:English
Subjects:
Advanced therapies
Amino acids
Animal models
Animals
Care and treatment
Ciliopathy
Development and progression
DNA Mutational Analysis
Electroretinography
Ethnicity
Eye Proteins - genetics
EYS
Gene mutations
Genetic aspects
Genetic disorders
Genotype & phenotype
Genotypes
Humans
Insects
Medical research
Medicine, Experimental
Mutation
Mutation - genetics
Phenotypes
Photoreceptors
Precision medicine
Proteins
Rare diseases
Retina
Retinal degeneration
Retinal Degeneration - genetics
Retinal Degeneration - therapy
Retinal dystrophy
Retinitis
Retinitis Pigmentosa
Retinopathy
Review
Vertebrates
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Summary: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.
ISSN:1750-1172
1750-1172
DOI:10.1186/s13023-021-01843-z