[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

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。