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乌舍尔综合征杂合子的暗适应测试

Dark adaptation testing in heterozygotes of Usher's syndrome.

作者信息

Sondheimer S, Fishman G A, Young R S, Vasquez V A

出版信息

Br J Ophthalmol. 1979 Aug;63(8):547-50. doi: 10.1136/bjo.63.8.547.

DOI:10.1136/bjo.63.8.547
PMID:476030
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1043546/
Abstract

Fourteen heterozygous carriers of Usher's syndrome were evaluated by ophthalmoscopy and dark adaptation testing. The normal findings in our study are discussed and compared with those of previous reports, which suggested that abnormal dark adaptation thresholds and fundus abnormalities may be seen in heterozygotes.

摘要

通过检眼镜检查和暗适应测试对14名Usher综合征杂合子携带者进行了评估。我们研究中的正常结果进行了讨论,并与之前的报告结果进行了比较,之前的报告表明杂合子可能出现异常的暗适应阈值和眼底异常。

相似文献

1
Dark adaptation testing in heterozygotes of Usher's syndrome.乌舍尔综合征杂合子的暗适应测试
Br J Ophthalmol. 1979 Aug;63(8):547-50. doi: 10.1136/bjo.63.8.547.
2
A new clinical classification for Usher's syndrome based on a new subtype of Usher's syndrome type I.基于I型Usher综合征新亚型的Usher综合征新临床分类。
Laryngoscope. 2001 Jan;111(1):84-6. doi: 10.1097/00005537-200101000-00014.
3
Usher's syndrome type 3 in Finland.
Laryngoscope. 1995 Jun;105(6):613-7. doi: 10.1288/00005537-199506000-00010.
4
Usher's syndrome type III: ENG findings in four affected and six unaffected siblings.III型Usher综合征:4名患病和6名未患病同胞的ENG检查结果
J Laryngol Otol. 1985 Jan;99(1):43-8. doi: 10.1017/s0022215100096262.
5
[The incidence of Usher's syndrome and its clinical types].
Kulak Burun Bogaz Ihtis Derg. 2002 Jan-Feb;9(1):15-20.
6
An unusual otological manifestation of Usher's syndrome in four siblings.四名兄弟姐妹中出现的一种不寻常的乌舍尔综合征耳部表现。
Clin Genet. 1983 Oct;24(4):273-9. doi: 10.1111/j.1399-0004.1983.tb00082.x.
7
Polyunsaturated fatty acids are lower in blood lipids of Usher's type I but not Usher's type II.多不饱和脂肪酸在I型Usher综合征患者的血脂中含量较低,但在II型Usher综合征患者中并非如此。
Invest Ophthalmol Vis Sci. 1998 Oct;39(11):2164-6.
8
Usher's syndrome.乌舍尔综合征
Ophthalmic Paediatr Genet. 1990 Mar;11(1):71-6. doi: 10.3109/13816819009012950.
9
[Usher's syndrome].
Oftalmologia. 2004;48(3):29-33.
10
Evidence against linkage of the gene for Usher's syndrome type 1 with group specific component (GC) on chromosome 4.关于1型Usher综合征基因与4号染色体上的组特异性成分(GC)之间不存在连锁关系的证据。
Ann Genet. 1990;33(2):103-4.

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Genes (Basel). 2021 Jan 24;12(2):151. doi: 10.3390/genes12020151.
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A Novel Mouse Model of USH1B Reveals Auditory and Visual System Haploinsufficiencies.一种新型的USH1B小鼠模型揭示了听觉和视觉系统的单倍剂量不足。
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Myosin7a deficiency results in reduced retinal activity which is improved by gene therapy.肌球蛋白 7a 缺乏导致视网膜活动减少,基因治疗可改善这种情况。
PLoS One. 2013 Aug 26;8(8):e72027. doi: 10.1371/journal.pone.0072027. eCollection 2013.
4
Clinical and molecular genetic characterisation of a family segregating autosomal dominant retinitis pigmentosa and sensorineural deafness.一个常染色体显性遗传性视网膜色素变性和感音神经性耳聋家系的临床及分子遗传学特征分析
Br J Ophthalmol. 1997 Mar;81(3):207-13. doi: 10.1136/bjo.81.3.207.

本文引用的文献

1
Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: A clinical and genetico-statistical study.色素性视网膜炎合并先天性耳聋;部分病例伴有前庭小脑共济失调和精神异常:一项临床及遗传统计学研究。
Acta Psychiatr Scand Suppl. 1959;34(138):1-101.
2
Rod and cone vision in retinitis pigmentosa.视网膜色素变性中的视杆和视锥视觉。
Am J Ophthalmol. 1956 Oct;42(4 Part 2):253-69. doi: 10.1016/0002-9394(56)90377-4.
3
The hereditary syndrome of congenital deafness and retinitis pigmentosa. (Usher's syndrome).先天性耳聋和色素性视网膜炎的遗传性综合征(乌舍尔综合征)。
Laryngoscope. 1966 May;76(5):850-62. doi: 10.1288/00005537-196605000-00004.
4
Usher's syndrome, with special reference to heterozygous manifestations.尤塞氏综合征,特别涉及杂合子表现。
Doc Ophthalmol. 1970 Jul 24;28(1):166-90. doi: 10.1007/BF00153876.
5
Usher's syndrome--deafness and progressive blindness. Clinical cases, prevention, theory and literature survey.
J Chronic Dis. 1969 Aug;22(3):133-51. doi: 10.1016/0021-9681(69)90055-1.
6
An evaluation of genetic carriers of Usher's syndrome.对乌舍尔综合征基因携带者的评估。
Am J Ophthalmol. 1972 Nov;74(5):940-7. doi: 10.1016/0002-9394(72)91215-9.