医学
发育不全
青光眼
眼科
基因
验光服务
遗传学
解剖
生物
出处
期刊:Ophthalmology
[Elsevier]
日期:2020-06-01
卷期号:127 (6): 767-768
被引量:10
标识
DOI:10.1016/j.ophtha.2020.02.035
摘要
Childhood glaucoma is a leading cause of blindness in children and early detection and treatment is necessary to preserve visual function. Genetic testing can detect children at risk for disease and test results can inform genetic counseling. Early disease detection allows for development of surveillance strategies and timely therapeutic intervention. However, currently only a fraction of affected children can benefit from genetic testing because the genes known to cause childhood glaucoma have a combined diagnostic yield of about 20% in affected individuals.
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