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疑似鱼眼病病例的临床和组织病理学特征。

Clinical and histopathological features of a suspected case of fish-eye disease.

机构信息

Department of Ophthalmology, Kansai Medical University, 2-3-1 Shinmachi, Hirakata, Osaka 573-1191, Japan.

出版信息

Jpn J Ophthalmol. 2012 Sep;56(5):453-7. doi: 10.1007/s10384-012-0164-1. Epub 2012 Aug 2.

DOI:10.1007/s10384-012-0164-1
PMID:22855019
Abstract

PURPOSE

To report the clinical and histopathological features of a suspected case of fish-eye disease.

CASE

A 57-year-old man presented with blurred vision. The best corrected visual acuity was 0.8 OD and 1.0 OS. The patient had no family history of cloudy cornea. Slit-lamp examination revealed massive bilateral diffuse corneal clouding. Because of progressive corneal clouding during the previous 3 years, we performed penetrating keratoplasty and cataract surgery. He had a low-plasma, high-density lipoprotein (HDL) concentration. Histopathologically, numerous small vacuoles were dispersed, especially in the anterior corneal stroma. An electron microscope revealed distinct 0.2-3.0-μm lipid vacuoles with a conserved stromal structure.

CONCLUSION

We suspected a case of sporadic fish-eye disease in a Japanese patient. Lipid deposition needs to be considered as a cause of diffuse corneal opacity.

摘要

目的

报告一例疑似鱼眼病的临床和组织病理学特征。

病例

一名 57 岁男性因视力模糊就诊。最佳矫正视力右眼为 0.8,左眼为 1.0。该患者无混浊角膜的家族史。裂隙灯检查显示双侧弥漫性角膜混浊。由于过去 3 年中角膜混浊逐渐加重,我们进行了穿透性角膜移植和白内障手术。患者的血浆浓度低,高密度脂蛋白(HDL)浓度高。组织病理学检查显示,大量小泡散在分布,特别是在前部角膜基质中。电子显微镜显示明显的 0.2-3.0-μm 脂质空泡,基质结构保持不变。

结论

我们怀疑该日本患者为散发性鱼眼病。脂质沉积需要考虑为弥漫性角膜混浊的原因之一。

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Histopathology of corneal changes in lecithin-cholesterol acyltransferase deficiency.卵磷脂胆固醇酰基转移酶缺乏症角膜改变的组织病理学
Cornea. 2002 Nov;21(8):834-7. doi: 10.1097/00003226-200211000-00022.
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Fish eye syndrome: a molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity. Implications for classification and prognosis.鱼眼综合征:一种与正常α-卵磷脂胆固醇酰基转移酶(LCAT)特异性活性相关的卵磷脂胆固醇酰基转移酶(LCAT)基因分子缺陷。对分类和预后的影响。
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Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met).与鱼眼病相关的卵磷脂胆固醇酰基转移酶基因中的两种不同等位基因突变。卵磷脂胆固醇酰基转移酶(苏氨酸123→异亮氨酸)和卵磷脂胆固醇酰基转移酶(苏氨酸347→甲硫氨酸)。
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