Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa

角膜球状症伴 ARCL1B (EFEMP2 基因) 皮肤松弛症

阅读:1

Abstract

PURPOSE: To report a case of keratoglobus in a patient with autosomal recessive (AR) cutis laxa. OBSERVATIONS: A 38 year old male presented with decreased vision in both eyes uncorrectable with spectacles and a history of corneal rupture in the left eye from incidental trauma a decade prior. His ocular exam was consistent with keratoglobus. His medical and family history indicated AR cutis laxa. CONCLUSIONS AND IMPORTANCE: We believe that this is the first reported case of keratoglobus associated with cutis laxa.

特别声明

1、本页面内容包含部分的内容是基于公开信息的合理引用;引用内容仅为补充信息,不代表本站立场。

2、若认为本页面引用内容涉及侵权,请及时与本站联系,我们将第一时间处理。

3、其他媒体/个人如需使用本页面原创内容,需注明“来源:[生知库]”并获得授权;使用引用内容的,需自行联系原作者获得许可。

4、投稿及合作请联系:info@biocloudy.com。