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喀麦隆一名儿童患彼得斯异常综合征:病例报告。

Peters plus anomaly in a Cameroonian child: a case report.

作者信息

Kagmeni Giles, Bilong Yannick, Mbogos Cedric, Bella Assumpta Lucienne

机构信息

University Teaching Hospital, Yaoundé, Cameroon; Eye Department, University of Yaoundé 1, Yaoundé, Cameroon.

Eye Department, University of Yaoundé 1, Yaoundé, Cameroon.

出版信息

Int Med Case Rep J. 2016 Oct 14;9:317-319. doi: 10.2147/IMCRJ.S115941. eCollection 2016.

DOI:10.2147/IMCRJ.S115941
PMID:27789975
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5072567/
Abstract

BACKGROUND

Peters' anomaly (PA) is a rare form of anterior segment dysgenesis characterized by corneal opacity with varied degree of anterior chamber affection with associated defects in the posterior layers of the cornea.

CASE PRESENTATION

We report the case of a 3-month-old male infant with bilateral corneal opacity since birth who was transferred from the pediatric unit for further ophthalmic care. He was diagnosed with PA with subsequent systemic-associated malformations including craniofacial defects and skeletal defects. He was managed minimally with topical mydriatics and antiglaucomatous drugs.

CONCLUSION

PA is an inevitable cause of blindness in developing countries due to poor infrastructure and limited resources.

摘要

背景

彼得斯异常(PA)是一种罕见的眼前段发育异常形式,其特征为角膜混浊,并伴有不同程度的前房受累以及角膜后层相关缺陷。

病例报告

我们报告了一名3个月大的男婴病例,该男婴自出生以来双眼角膜混浊,从儿科转入接受进一步眼科治疗。他被诊断为PA,随后出现了包括颅面缺陷和骨骼缺陷在内的全身相关畸形。对他进行了最小化治疗,使用了局部散瞳剂和抗青光眼药物。

结论

由于基础设施差和资源有限,PA在发展中国家是导致失明的一个不可避免的原因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adef/5072567/69870c1e75a1/imcrj-9-317Fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adef/5072567/93f493efbf0f/imcrj-9-317Fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adef/5072567/64cc7f72b9af/imcrj-9-317Fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adef/5072567/f57bda3a0b0c/imcrj-9-317Fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adef/5072567/69870c1e75a1/imcrj-9-317Fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adef/5072567/93f493efbf0f/imcrj-9-317Fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adef/5072567/64cc7f72b9af/imcrj-9-317Fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adef/5072567/f57bda3a0b0c/imcrj-9-317Fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adef/5072567/69870c1e75a1/imcrj-9-317Fig4.jpg

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Peters Anomaly彼得斯异常

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Whole exome sequence analysis of Peters anomaly.彼得斯异常的全外显子组序列分析
Hum Genet. 2014 Dec;133(12):1497-511. doi: 10.1007/s00439-014-1481-x. Epub 2014 Sep 3.
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Long-term visual outcomes of penetrating keratoplasty for Peters anomaly.穿透性角膜移植治疗 Peters 异常的长期视力结果。
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Microphthalmia and microcornea: in congenital cytomegalovirus.
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Mutation analysis of B3GALTL in Peters Plus syndrome.彼得斯综合征中B3GALTL的突变分析
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Histopathological examination of two cases of anterior staphyloma associated with Peters' anomaly and persistent hyperplastic primary vitreous.两例与彼得斯异常和永存原始玻璃体增生症相关的前葡萄肿的组织病理学检查。
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Peters' anomaly: a review of 26 penetrating keratoplasties in infants.彼得斯异常:26例婴儿穿透性角膜移植术的回顾
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