期刊
OPHTHALMIC GENETICS
卷 39, 期 2, 页码 149-157出版社
TAYLOR & FRANCIS INC
DOI: 10.1080/13816810.2017.1418389
关键词
Achromatopsia; clinical trials; cone; cone dysfunction syndrome; gene therapy
资金
- National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust
- UCL Institute of Ophthalmology
- Medical Research Council
- Moorfields Eye Charity
- Retinitis Pigmentosa Fighting Blindness
- Foundation Fighting Blindness (USA)
- Fight for Sight
- Moorfields Eye Hospital Special Trustees
- National Institute for Health Research [NIHR-RP-011-003] Funding Source: researchfish
Achromatopsia is an autosomal recessive condition, characterised by reduced visual acuity, impaired colour vision, photophobia and nystagmus. The symptoms can be profoundly disabling, and there is no cure currently available. However, the recent development of gene-based interventions may lead to improved outcomes in the future. This article aims to provide a comprehensive review of the clinical features of the condition, its genetic basis and the underlying pathogenesis. We also explore the insights derived from animal models, including the implications for gene supplementation approaches. Finally, we discuss current human gene therapy trials.
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