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

Orphanet Journal of Rare Diseases

Ana B. Garcia-Delgado¹  Berta de la Cerda¹  Lourdes Valdes-Sanchez¹  Francisco J. Diaz-Corrales¹  Maria Jose Morillo-Sanchez²  Beatriz Ponte-Zuñiga³ 

[1] Andalusian Center for Molecular Biology and Regenerative Medicine (CABIMER), Avda. Americo Vespucio 24, 41092, Seville, Spain;Department of Ophthalmology, University Hospital Virgen Macarena, Seville, Spain;Department of Ophthalmology, University Hospital Virgen Macarena, Seville, Spain;Retics Oftared, Institute of Health Carlos III, Madrid, Spain;

关键词: Retinal dystrophy;    EYS;    Ciliopathy;    Animal models;    Advanced therapies;   

DOI  :  10.1186/s13023-021-01843-z

来源: Springer

【 摘 要 】

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.

【 授权许可】

CC BY