LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS—SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED
| العنوان: | LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS—SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED |
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| المؤلفون: | Bart P. Leroy, Fernanda Belga Ottoni Porto, Byron L. Lam, Robert K. Koenekoop, Jacque L. Duncan, Stephen R. Russell, Aniz Girach, David G. Birch |
| المصدر: | Retina (Philadelphia, Pa.) Retina (Philadelphia, Pa.), vol 41, iss 5 |
| بيانات النشر: | Retina, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | 0301 basic medicine, Pediatrics, DNA Mutational Analysis, Leber Congenital Amaurosis, Phases of clinical research, Cell Cycle Proteins, Disease, Review, Eye, Ophthalmology & Optometry, Blindness, Indirect costs, 0302 clinical medicine, Quality of life, cone-rod dystrophy, Early childhood, LCA10, Pediatric, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Disease Management, General Medicine, childhood blindness, inherited retinal disease, CEP290, medicine.medical_specialty, Clinical Trials and Supportive Activities, 03 medical and health sciences, Rare Diseases, Antisense Oligonucleotide Therapy, Clinical Research, Opthalmology and Optometry, Antigens, Neoplasm, medicine, Genetics, Humans, Antigens, Eye Disease and Disorders of Vision, Health Services Needs and Demand, Stem Cell Research - Induced Pluripotent Stem Cell, business.industry, Neurosciences, DNA, medicine.disease, Leber congenital amaurosis, Stem Cell Research, Ophthalmology, Ciliopathy, Cytoskeletal Proteins, 030104 developmental biology, ciliopathy, 030221 ophthalmology & optometry, Neoplasm, c2991+1655A>G, business |
| الوصف: | Supplemental Digital Content is Available in the Text. In this article, we review the clinical characteristics of Leber congenital amaurosis due to CEP290 mutations (LCA10) and its impact on patients and society. We discuss the challenges associated with differential diagnosis of LCA10, the significant burden of childhood visual impairment, and the investigational treatment strategies currently in development. Purpose: Leber congenital amaurosis due to CEP290 mutations (LCA10) is an inherited retinal disease that often results in severe visual impairment or blindness in early childhood. Currently, there are no approved treatments, highlighting the considerable unmet medical need associated with LCA10. We aimed to review the clinical characteristics of LCA10, its impact on patients and society, and the investigational treatment strategies currently in development. Methods: Review of the current literature. Results: LCA10 is an autosomal recessive ciliopathy, for which the CEP290 intronic variant c.2991+1655A>G (p.Cys998X) is the most common mutation. Usually diagnosed in early childhood, most patients with LCA10 have severe visual impairment during their first decade of life, which significantly affects the quality of life and development. LCA10 also has a significant societal burden (direct and indirect costs). RNA editing using antisense oligonucleotides or Staphylococcus aureus CRISPR-associated protein-9 nuclease is currently under investigation for treatment of p.Cys998X LCA10. Specifically, the antisense oligonucleotide therapy QR-110 (sepofarsen) has demonstrated encouraging safety and efficacy data in a first-in-human trial; a phase 3 clinical trial is ongoing. Conclusion: Interventions that can preserve or improve vision in patients with LCA10 have considerable potential to improve the patient quality of life and reduce burden of disease. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1539-2864 0275-004X |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82b57206418cb0d77a5f7f6def2ad508 http://europepmc.org/articles/PMC8078118 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....82b57206418cb0d77a5f7f6def2ad508 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15392864 0275004X |
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