伴有ARCL1B（EFEMP2基因）型皮肤松弛症的球形角膜
Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa.
作者信息
Mauger Thomas F, Mundy Chantelle L, Oostra Tyler D, Patel Pratik J
机构信息
West Virginia University Department of Ophthalmology and Visual Science, 1 Medical Center Drive, Morgantown West, Virginia, 26506, USA.
The Ohio State University, Department of Ophthalmology and Visual Science, 915 Olentangy River Road, Columbus, OH, 43212, USA.
出版信息
Am J Ophthalmol Case Rep. 2019 May 30;15:100477. doi: 10.1016/j.ajoc.2019.100477. eCollection 2019 Sep.
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.
目的
报告一例常染色体隐性遗传性（AR）皮肤松弛症患者合并球形角膜的病例。
观察结果
一名38岁男性，双眼视力下降，戴眼镜无法矫正，且有10年前左眼因意外创伤导致角膜破裂的病史。眼部检查结果符合球形角膜。其病史及家族史提示为AR皮肤松弛症。
结论及重要性
我们认为这是首例报道的与皮肤松弛症相关的球形角膜病例。
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