A 19-month-old girl with nystagmus, paradoxical pupillary response and low vision.
作者信息
Montezuma Sandra Rocio
机构信息
Massachusetts Eye and Ear Infirmary.
出版信息
Digit J Ophthalmol. 2008 Feb 25;14:12-14. doi: 10.5693/djo.03.2008.004. eCollection 2008.
Abstract
摘要
相似文献
1
A 19-month-old girl with nystagmus, paradoxical pupillary response and low vision.一名19个月大的女童，患有眼球震颤、反常瞳孔反应及视力低下。
Digit J Ophthalmol. 2008 Feb 25;14:12-14. doi: 10.5693/djo.03.2008.004. eCollection 2008.
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Extensive persistent pupillary membranes: conservative management.广泛持续性瞳孔膜：保守治疗
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Achromatopsia. Clinical diagnosis and treatment.
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本文引用的文献
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CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.CNGB3基因突变占所有常染色体隐性遗传性全色盲病例的50%。
Eur J Hum Genet. 2005 Mar;13(3):302-8. doi: 10.1038/sj.ejhg.5201269.
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The cone dysfunction syndromes.视锥细胞功能障碍综合征
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Pingelapese achromatopsia: correlation between paradoxical pupillary response and clinical features.平格拉普岛全色盲：反常瞳孔反应与临床特征之间的相关性。
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Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2).将一个新的全色盲基因座（ACHM4）定位到1p，并鉴定视锥转导蛋白α亚基（GNAT2）中的一个种系突变。
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CNGA3 mutations in hereditary cone photoreceptor disorders.遗传性视锥光感受器疾病中的CNGA3突变
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The cone dystrophies.圆锥角膜营养不良
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7
Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.全色盲是由编码视锥光感受器cGMP门控阳离子通道α亚基的基因突变引起的。
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8
Clinical vision characteristics of the congenital achromatopsias. I. Visual acuity, refractive error, and binocular status.先天性全色盲的临床视觉特征。I. 视力、屈光不正和双眼状态。
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Electroretinograms in patients with achromatopsia.
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