Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene-Reference-Cited by-同舟云学术

Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene

Published:2021-05-05 Issue:5 Volume:42 Page:521-532
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

De Zaeytijd Julie¹^ORCID,Coppieters Frauke²³^ORCID,De Bruyne Marieke²³^ORCID,Van Royen Jasper²^ORCID,Roels Dimitri¹^ORCID,Six Rani²^ORCID,Van Cauwenbergh Caroline¹²⁴^ORCID,De Baere Elfride²³^ORCID,Leroy Bart P.¹²⁴⁵⁶^ORCID

Affiliation:

1. Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium

2. Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium

3. Department of Biomolecular Medicine, Ghent University, Ghent, Belgium

4. Department of Head & Skin, Ghent University, Ghent, Belgium

5. Division of Ophthalmology, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

6. Center for Cellular & Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA

Funder

Ghent University Special Research Fund

Ghent University Hospital

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2021.1923041

Reference29 articles.

1. Unravelling the genetics of inherited retinal dystrophies: Past, present and future

2. Seeing the Light after 25 Years of Retinal Gene Therapy

3. Phenotypic findings inC1QTNF5retinopathy (late-onset retinal degeneration)

4. THE CHARACTERIZATION OF RETINAL PHENOTYPE IN A FAMILY WITH C1QTNF5-RELATED LATE-ONSET RETINAL DEGENERATION

5. Whole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degeneration

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2. Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5;Investigative Opthalmology & Visual Science;2023-12-22

3. An incipient late-onset retinal degeneration with a C1QTNF5 mutation: a case report with an 11-year follow-up;Documenta Ophthalmologica;2023-12-21

4. Longitudinal Changes of Retinal Structure in Molecularly Confirmed C1QTNF5 Patients With Late-Onset Retinal Degeneration;Translational Vision Science & Technology;2023-12-12

5. Application of Electrophysiology in Non-Macular Inherited Retinal Dystrophies;Journal of Clinical Medicine;2023-11-06