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与Pearson综合征线粒体细胞病相关的双侧小带性白内障。

Bilateral zonular cataract associated with the mitochondrial cytopathy of Pearson syndrome.

作者信息

Cursiefen C, Küchle M, Scheurlen W, Naumann G O

机构信息

Department of Ophthalmology, University Eye Hospital, Friedrich-Alexander-University Erlangen-Nürnberg, Germany.

出版信息

Am J Ophthalmol. 1998 Feb;125(2):260-1. doi: 10.1016/s0002-9394(99)80105-6.

DOI:10.1016/s0002-9394(99)80105-6
PMID:9467460
Abstract

PURPOSE

To report a child with the mitochondrial cytopathy of Pearson syndrome and zonular cataract.

METHOD

Case report. We describe a 6-year-old boy with Pearson syndrome.

RESULTS

At age 3 years, the boy developed secondary strabismus caused by bilateral zonular cataract. Subsequently, he underwent successful bilateral cataract extraction with intraocular lens implantation. Postoperative visual acuity with best correction was RE, 20/25 and LE, 20/40.

CONCLUSIONS

Children with Pearson syndrome should be examined ophthalmologically to rule out zonular cataract and possible amblyopia. Mitochondrial cytopathies such as Pearson syndrome should be included in the differential diagnosis of congenital and early juvenile cataract.

摘要

目的

报告一例患有皮尔逊综合征线粒体细胞病并伴有晶状体悬韧带性白内障的儿童。

方法

病例报告。我们描述了一名患有皮尔逊综合征的6岁男孩。

结果

3岁时,该男孩因双侧晶状体悬韧带性白内障出现继发性斜视。随后,他成功接受了双侧白内障摘除及人工晶状体植入术。最佳矫正视力术后右眼为20/25,左眼为20/40。

结论

应眼科检查患有皮尔逊综合征的儿童,以排除晶状体悬韧带性白内障和可能的弱视。线粒体细胞病如皮尔逊综合征应纳入先天性和早期青少年白内障的鉴别诊断。

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Bilateral zonular cataract associated with the mitochondrial cytopathy of Pearson syndrome.与Pearson综合征线粒体细胞病相关的双侧小带性白内障。
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Bilateral zonular cataract associated with the mitochondrial cytopathy of Pearson syndrome.
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An infant with Pearson syndrome: a rare cause of congenital sideroblastic anemia and bone marrow failure.一名患有皮尔逊综合征的婴儿:先天性铁粒幼细胞贫血和骨髓衰竭的罕见病因。
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Long-term results of bilateral congenital cataract treated with early cataract surgery, aphakic glasses and secondary IOL implantation.双侧先天性白内障行早期白内障手术、无晶状体眼镜和二期人工晶状体植入术后的长期疗效。
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[Long-term follow-up of visual functions after pediatric cataract extraction and intraocular lens implantation].[儿童白内障摘除及人工晶状体植入术后视觉功能的长期随访]
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Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts.线粒体丝氨酸转运RNA(AGY)m.C12264T突变导致伴有白内障的严重多系统疾病。
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Analysis of mitochondrial DNA variations in Indian patients with congenital cataract.印度先天性白内障患者线粒体DNA变异分析
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