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一名常染色体隐性遗传性扁平角膜患者的角膜扩张和角膜水肿

Corneal ectasia and hydrops in a patient with autosomal recessive cornea plana.

作者信息

Khan Arif O, Aldahmesh Mohammed, Meyer Brian

机构信息

Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

出版信息

Ophthalmic Genet. 2006 Sep;27(3):99-101. doi: 10.1080/13816810600862469.

Abstract

PURPOSE

To report the development of corneal ectasia and hydrops in a patient with autosomal recessive cornea plana.

METHODS

Retrospective observational case report.

RESULTS

A 16-year-old male with a prior diagnosis of autosomal recessive cornea plana who complained of unilateral visual loss of one month's duration was found to have corneal edema consistent with resolving hydrops in the affected eye. The edema resolved over time, and keratometry revealed high astigmatism in both eyes despite documentation of no significant corneal astigmatism 11 years before. Slit-lamp examination confirmed corneal thinning in both eyes corresponding to the meridian of the astigmatism. The prior diagnosis of cornea plana was confirmed by molecular genetic testing.

CONCLUSIONS

Although not a characteristic finding of cornea plana, corneal ectasia can rarely occur and be associated with corneal hydrops.

摘要

目的

报告一名常染色体隐性遗传性扁平角膜患者发生角膜扩张和角膜水肿的情况。

方法

回顾性观察病例报告。

结果

一名16岁男性,既往诊断为常染色体隐性遗传性扁平角膜,主诉单侧视力丧失1个月,检查发现患眼角膜水肿,符合正在消退的角膜水肿表现。随着时间推移,水肿消退,角膜曲率测量显示双眼存在高度散光,尽管11年前记录显示角膜散光并不显著。裂隙灯检查证实双眼角膜在散光子午线方向变薄。通过分子遗传学检测确诊为扁平角膜。

结论

尽管角膜扩张并非扁平角膜的典型表现,但仍可能罕见发生并伴有角膜水肿。

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