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

التفاصيل البيبلوغرافية
العنوان: Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5.
المؤلفون: Li RTH; Centre for Clinical Brain Sciences, School of Clinical Sciences, University of Edinburgh, Edinburgh, Scotland, United Kingdom.; Princess Alexandra Eye Pavilion, NHS Lothian, Edinburgh, Scotland, United Kingdom., Roman AJ; Center for Hereditary Retinal Degenerations, Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States., Sumaroka A; Center for Hereditary Retinal Degenerations, Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States., Stanton CM; Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom., Swider M; Center for Hereditary Retinal Degenerations, Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States., Garafalo AV; Center for Hereditary Retinal Degenerations, Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States., Heon E; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Vincent A; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Wright AF; Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom., Megaw R; Princess Alexandra Eye Pavilion, NHS Lothian, Edinburgh, Scotland, United Kingdom.; Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom., Aleman TS; Center for Hereditary Retinal Degenerations, Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States., Browning AC; Newcastle Eye Centre, Royal Victoria Infirmary, Newcastle Upon Tyne, United Kingdom., Dhillon B; Centre for Clinical Brain Sciences, School of Clinical Sciences, University of Edinburgh, Edinburgh, Scotland, United Kingdom.; Princess Alexandra Eye Pavilion, NHS Lothian, Edinburgh, Scotland, United Kingdom., Cideciyan AV; Center for Hereditary Retinal Degenerations, Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States.
المصدر: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2023 Dec 01; Vol. 64 (15), pp. 33.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE
أسماء مطبوعة: Publication: Brookline Ma : Association For Research In Vision And Ophthalmology (Arvo)
Original Publication: St. Louis, Mosby.
مواضيع طبية MeSH: Retinal Degeneration*/genetics , Retinal Degeneration*/pathology , Retinal Degeneration*/therapy , Genetic Therapy*/methods, Humans ; Adult ; Middle Aged ; Aged ; Late Onset Disorders/genetics ; Late Onset Disorders/pathology ; Late Onset Disorders/therapy ; Collagen/genetics ; Male ; Female ; Fovea Centralis/pathology ; Tomography, Optical Coherence ; Gene Editing
مستخلص: Purpose: Genome editing is an emerging group of technologies with the potential to ameliorate dominant, monogenic human diseases such as late-onset retinal degeneration (L-ORD). The goal of this study was to identify disease stages and retinal locations optimal for evaluating the efficacy of a future genome editing trial.
Methods: Twenty five L-ORD patients (age range, 33-77 years; median age, 59 years) harboring the founder variant S163R in C1QTNF5 were enrolled from three centers in the United Kingdom and United States. Patients were examined with widefield optical coherence tomography (OCT) and chromatic perimetry under dark-adapted and light-adapted conditions to derive phenomaps of retinal disease. Results were analyzed with a model of a shared natural history of a single delayed exponential across all subjects and all retinal locations.
Results: Critical age for the initiation of photoreceptor loss ranged from 48 years at the temporal paramacular retina to 74 years at the inferior midperipheral retina. Subretinal deposits (sRET-Ds) became more prevalent as critical age was approached. Subretinal pigment epithelial deposits (sRPE-Ds) were detectable in the youngest patients showing no other structural or functional abnormalities at the retina. The sRPE-D thickness continuously increased, reaching 25 µm in the extrafoveal retina and 19 µm in the fovea at critical age. Loss of light sensitivity preceded shortening of outer segments and loss of photoreceptors by more than a decade.
Conclusions: Retinal regions providing an ideal treatment window exist across all severity stages of L-ORD.
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المشرفين على المادة: 0 (C1QTNF5 protein, human)
9007-34-5 (Collagen)
تواريخ الأحداث: Date Created: 20231222 Date Completed: 20231225 Latest Revision: 20240328
رمز التحديث: 20240329
مُعرف محوري في PubMed: PMC10746929
DOI: 10.1167/iovs.64.15.33
PMID: 38133503
قاعدة البيانات: MEDLINE
الوصف
تدمد:1552-5783
DOI:10.1167/iovs.64.15.33