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伴有全身异常的罕见阿克森费尔德-里格尔综合征:一例报告并文献简要回顾

The rare Axenfeld-Rieger syndrome with systemic anomalies: A case report and brief review of literature.

作者信息

Song Wei, Hu Xiaodan

机构信息

Department of Ophthalmology, Jiaxing Traditional Chinese Medicine Hospital Affiliated to Zhejiang Chinese Medical University, Jiaxing, Zhejiang Province Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Dongcheng District, Beijing, China.

出版信息

Medicine (Baltimore). 2017 Aug;96(33):e7791. doi: 10.1097/MD.0000000000007791.

DOI:10.1097/MD.0000000000007791
PMID:28816964
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5571701/
Abstract

RATIONALE

Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder with ocular anterior segment dysgenesis and systemic anomalies.

PATIENT CONCERNS

A 28-year-old Chinese Han female was referred to Beijing Tongren Eye Center for progressive decrease of the visual acuity on her right eye in the past month.

DIAGNOSES

The patient was diagnosed as ARS with retinal detachment based on series of ophthalmic examinations performed.

INTERVENTIONS

A pars plana vitrectomy was performed to manage the retinal detachment.

OUTCOMES

Her best-corrected visual acuity was slightly improved after surgery.

LESSONS

ARS is a developmental defect of ocular anterior segment with various clinical manifestations which might cause misdiagnosis.

摘要

理论依据

Axenfeld-Rieger综合征(ARS)是一种罕见的常染色体显性疾病,伴有眼前段发育异常和全身异常。

患者情况

一名28岁的中国汉族女性因右眼视力在过去一个月逐渐下降,被转诊至北京同仁眼科中心。

诊断

根据一系列眼科检查,该患者被诊断为ARS合并视网膜脱离。

干预措施

进行了玻璃体切除术以治疗视网膜脱离。

结果

术后她的最佳矫正视力略有提高。

经验教训

ARS是一种眼前段发育缺陷,有多种临床表现,可能导致误诊。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c78/5571701/d07ebf33b577/medi-96-e7791-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c78/5571701/45b3b9313bfa/medi-96-e7791-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c78/5571701/fdf356cc8db3/medi-96-e7791-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c78/5571701/d07ebf33b577/medi-96-e7791-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c78/5571701/45b3b9313bfa/medi-96-e7791-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c78/5571701/fdf356cc8db3/medi-96-e7791-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c78/5571701/d07ebf33b577/medi-96-e7791-g003.jpg

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2
[Progressive moderate mitral regurgitation in a children with Axenfeld-Rieger syndrome. The importance of cardiologic follow up].[一名患有阿克森费尔德-里格尔综合征儿童的进行性中度二尖瓣反流。心脏科随访的重要性]
Arch Argent Pediatr. 2016 Dec 1;114(6):e417-e420. doi: 10.5546/aap.2016.e417.
3
A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.
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Am J Ophthalmol Case Rep. 2022 Mar 10;26:101486. doi: 10.1016/j.ajoc.2022.101486. eCollection 2022 Jun.
4
Axenfeld-Rieger syndrome combined with a foveal anomaly in a three-generation family: a case report.三代家系中 Axenfeld-Rieger 综合征合并中心凹异常 1 例报告
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A case of Axenfeld-Rieger syndrome (ARS) with asymmetric ocular phenotypes and left glaucomatous optic atrophy.一例具有不对称眼部表型及左眼青光眼性视神经萎缩的阿克森费尔德-里格尔综合征(ARS)病例。
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