Self-reported visual function and psychosocial impact of visual loss in <i>EYS</i>-associated retinal degeneration in a Portuguese population-Reference-Cited by-同舟云学术

Self-reported visual function and psychosocial impact of visual loss in EYS-associated retinal degeneration in a Portuguese population

Published:2023-03-22 Issue:4 Volume:44 Page:334-340
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Marques João Pedro¹²³⁴⁵^ORCID,Machado Soares Ricardo⁶,Simão Sílvia¹,Abuzaitoun Rebhi⁷,Andrews Chris⁷,Alves C. Henrique²³⁴⁸,Ambrósio António Francisco²³⁴⁸,Murta Joaquim¹²³⁴⁵,Silva Rufino¹²³⁴⁵,Abalem Maria Fernanda⁷⁹,Jayasundera K. Thiran⁷

Affiliation:

1. Ophthalmology Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal

2. Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal

3. Faculty of Medicine, University of Coimbra, Coimbra Institute for Clinical and Biomedical Research (iCBR), Coimbra, Portugal

4. Association for Innovation and Biomedical Research on Light and Image (AIBILI), Coimbra, Portugal

5. University Clinic of Ophthalmology, Faculty of Medicine, University of Coimbra (FMUC), Coimbra, Portugal

6. Department of Ophthalmology, Centro Hospitalar de Vila Nova de Gaia e Espinho (CHVNGE), Gaia, Portugal

7. Kellogg Eye Center, Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan, USA

8. Center for Innovative Biomedicine and Biotechnology (CIBB), University of Coimbra, Coimbra, Portugal

9. Department of Ophthalmology and Otolaryngology, University of Sao Paulo Medical School, Sao Paulo, Brazil

Funder

2022 GER/Abbvie Investigation Grant

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2023.2191708

Reference37 articles.

1. Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa

2. EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa

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

4. EYS Is a Protein Associated with the Ciliary Axoneme in Rods and Cones

5. Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities

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