The clinical presentation of bradyopsia in children.
J AAPOS. 2017 Dec;21(6):507-509.e1. Epub 2017 Oct 28
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摘要
Diagnosing bradyopsia can be challenging in young children because structural ophthalmic examination is typically normal and visual acuity can improve with pinhole despite no significant refractive error. This case series highlights the clinical presentations and features of 5 affected children (3 Arab families) who harbored the same homozygous RGS9 frameshift mutation, which seems to represent a founder effect for the Arabian Peninsula.
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基因功能
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原始数据
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文献解读
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