RT Journal Article
T1 Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy
A1 Garcia-Delgado, Ana B.
A1 Valdes-Sanchez, Lourdes
A1 Morillo-Sanchez, Maria Jose
A1 Ponte-Zuñiga, Beatriz
A1 Diaz-Corrales, Francisco J.
A1 de la Cerda, Berta
K1 Retinal dystrophy
K1 EYS
K1 Ciliopathy
K1 Animal models
K1 Advanced therapies
K1 Mutations
K1 Retinal degeneration
K1 Retinitis pigmentosa
K1 Distrofias retinianas
K1 Ciliopatías
K1 Modelos animales
K1 Mutación
K1 Degeneración retiniana
AB 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.
PB BMC, Springer Nature
YR 2021
FD 2021-05-17
LK http://hdl.handle.net/10668/4094
UL http://hdl.handle.net/10668/4094
LA en
NO Garcia-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.
DS RISalud
RD Apr 8, 2025