Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5

Author:

Li Randa T. H.12,Roman Alejandro J.3,Sumaroka Alexander3,Stanton Chloe M.4,Swider Malgorzata3,Garafalo Alexandra V.3,Heon Elise5,Vincent Ajoy5,Wright Alan F.4,Megaw Roly24,Aleman Tomas S.3,Browning Andrew C.6,Dhillon Baljean12,Cideciyan Artur V.3

Affiliation:

1. Centre for Clinical Brain Sciences, School of Clinical Sciences, University of Edinburgh, Edinburgh, Scotland, United Kingdom

2. Princess Alexandra Eye Pavilion, NHS Lothian, Edinburgh, Scotland, United Kingdom

3. Center for Hereditary Retinal Degenerations, Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States

4. Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom

5. Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada

6. Newcastle Eye Centre, Royal Victoria Infirmary, Newcastle Upon Tyne, United Kingdom

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

Cardiology and Cardiovascular Medicine

Reference84 articles.

1. Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration;Kuntz;Invest Ophthalmol Vis Sci,1996

2. Phenotypic marker for early disease detection in dominant late-onset retinal degeneration;Jacobson;Invest Ophthalmol Vis Sci,2001

3. Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degenaration: a genetic model for age-related macular degeneration;Hayward;Hum Mol Genet,2003

4. Late-onset retinal degeneration caused by C1QTNF5 mutation: sub-retinal pigment epithelium deposits and visual consequences;Jacobson;JAMA Ophthalmol,2014

5. Biochemical characterisation of the C1QTNF5 gene associated with late-onset retinal degeneration. A genetic model of age-related macular degeneration;Shu;Adv Exp Med Biol,2005

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