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[法布里病早期眼科检测的意义]

[Significance of early ophthalmologic detection of Fabry disease].

作者信息

Konrad G, Kohlschütter A, Aust W

出版信息

Klin Monbl Augenheilkd. 1984 Dec;185(6):535-8. doi: 10.1055/s-2008-1054690.

DOI:10.1055/s-2008-1054690
PMID:6441859
Abstract

A case of cornea verticillata discovered by chance is reported; as a result of this finding, a mother and daughter were found to be heterozygous carriers of Fabry's disease. The ocular and internal symptoms as well as the biochemical analysis are discussed. Early ophthalmologic diagnosis is essential. The patient should be informed of the genetic risk.

摘要

报告一例偶然发现的涡状角膜病变；基于这一发现，一名母亲和女儿被发现是法布里病的杂合子携带者。文中讨论了眼部和全身症状以及生化分析。早期眼科诊断至关重要。应告知患者遗传风险。

相似文献

1
[Significance of early ophthalmologic detection of Fabry disease].[法布里病早期眼科检测的意义]
Klin Monbl Augenheilkd. 1984 Dec;185(6):535-8. doi: 10.1055/s-2008-1054690.
2
[Value of the ophthalmologic examination in diagnosing patients with Anderson-Fabry disease and in heterozygote detection].
Klin Monbl Augenheilkd. 1991 May;198(5):354-7. doi: 10.1055/s-2008-1045979.
3
[Fabry's disease and cornea verticillata].
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[Cornea verticillata - a clinical marker of Fabry disease: case report].
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Severe orthostatic hypotension in a female carrier of Fabry's disease.
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Fabry disease - importance of screening in cornea verticillata: case report.
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Histopathologic findings of cornea verticillata in a woman heterozygous for Fabry's disease.
Cornea. 2001 Mar;20(2):233-6. doi: 10.1097/00003226-200103000-00028.
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[Fabry disease, an ophthalmo-neuro-dermato-cardio-nephrologic problem].[法布里病，一种眼-神经-皮肤-心脏-肾脏疾病]
Klin Monbl Augenheilkd. 1995 May;206(5):369-70. doi: 10.1055/s-2008-1035465.
9
[Unusual manifestation of retinal involvement in Fabry's disease].[法布里病视网膜受累的不寻常表现]
Bull Soc Ophtalmol Fr. 1986 May;86(5):731-6.
10
Ocular manifestations of Fabry's disease: data from the Fabry Outcome Survey.法布里病的眼部表现：来自法布里病结局调查的数据。
Br J Ophthalmol. 2007 Feb;91(2):210-4. doi: 10.1136/bjo.2006.100602. Epub 2006 Sep 14.