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伴有双侧闭角型青光眼的Weill-Marchesani综合征

Weill-Marchesani syndrome with bilateral angle-closure glaucoma.

作者信息

Wright K W, Chrousos G A

出版信息

J Pediatr Ophthalmol Strabismus. 1985 Jul-Aug;22(4):129-32. doi: 10.3928/0191-3913-19850701-04.

DOI:10.3928/0191-3913-19850701-04
PMID:4032187
Abstract

To our knowledge this is the first reported case of cyclopentolate induced bilateral acute angle-closure glaucoma associated with the Weill-Marchesani syndrome without lens subluxation. The diagnosis of Weill-Marchesani syndrome was not initially suspected, and Pilocarpine was used in an attempt to break the acute attack. Treatment with Pilocarpine-induced myosis only worsened the glaucoma by causing a severe pupillary block. This case is important because it demonstrates that mid-dilatation and cycloplegia can induce acute glaucoma in patients with the Weill-Marchesani syndrome and points out the importance for considering the diagnosis of Weill-Marchesani syndrome in any case of acute glaucoma in childhood.

摘要

据我们所知,这是首例报道的与韦尔-马歇桑综合征相关的环喷托酯诱发双侧急性闭角型青光眼病例,且无晶状体半脱位。最初并未怀疑韦尔-马歇桑综合征的诊断,曾使用毛果芸香碱试图打破急性发作。毛果芸香碱诱发的瞳孔缩小治疗仅通过引起严重瞳孔阻滞而使青光眼病情恶化。该病例很重要,因为它表明中度散瞳和睫状肌麻痹可在韦尔-马歇桑综合征患者中诱发急性青光眼,并指出在儿童任何急性青光眼病例中考虑韦尔-马歇桑综合征诊断的重要性。

相似文献

1
Weill-Marchesani syndrome with bilateral angle-closure glaucoma.伴有双侧闭角型青光眼的Weill-Marchesani综合征
J Pediatr Ophthalmol Strabismus. 1985 Jul-Aug;22(4):129-32. doi: 10.3928/0191-3913-19850701-04.
2
Pupillary-block glaucoma in the Marchesani syndrome.
Arch Ophthalmol. 1973 Dec;90(6):504-8. doi: 10.1001/archopht.1973.01000050504020.
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Ocular complications in the Weill-Marchesani syndrome.
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Weill-Marchesani syndrome.
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6
[Weill-Marchesani syndrome].
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[Ocular hypertonia in the Weill-Marchesani syndrome].
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Uncontrolled glaucoma secondary to an arteriovenous malformation in a Weill-Marchesani patient.Weill-Marchesani综合征患者继发于动静脉畸形的难治性青光眼。
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Weill-Marchesani syndrome in three generations.三代人中的Weill-Marchesani综合征。
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BMC Ophthalmol. 2015 Jan 9;15:3. doi: 10.1186/1471-2415-15-3.

引用本文的文献

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Weill-Marchesani syndrome 4 caused by compound heterozygosity of a maternal submicroscopic deletion and a paternal nonsense variant in the gene: A case report.由基因中母源亚显微缺失和父源无义变异的复合杂合性引起的Weill-Marchesani综合征4型:一例报告
Am J Ophthalmol Case Rep. 2022 Apr 14;26:101541. doi: 10.1016/j.ajoc.2022.101541. eCollection 2022 Jun.
2
Response to 'Role of miotics and cycloplegics in angle closure'.对“缩瞳剂和睫状肌麻痹剂在闭角型青光眼中的作用”的回应
Eye (Lond). 2015 Nov;29(11):1515-6. doi: 10.1038/eye.2015.123. Epub 2015 Jul 10.
3
Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome.
一名患有Weill-Marchesani综合征患者的ADAMTS10基因纯合错义突变的鉴定与分子特征分析
Eur J Hum Genet. 2015 Sep;23(9):1186-91. doi: 10.1038/ejhg.2014.264. Epub 2014 Dec 3.
4
Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.全外显子组测序在一个患有Weill-Marchesani综合征的印度家庭中鉴定出ADAMTS17基因的一个新的剪接位点突变。
Mol Vis. 2014 Jun 12;20:790-6. eCollection 2014.
5
Outcomes of trabeculectomy in microspherophakia.小眼球性青光眼小梁切除术的治疗效果
Indian J Ophthalmol. 2014 May;62(5):601-5. doi: 10.4103/0301-4738.129785.
6
Glycopyrrolate induced bilateral angle closure glaucoma after cervical spine surgery.颈椎手术后甘吡咯溴铵诱发双侧闭角型青光眼。
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Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.ADAMTS10和ADAMTS17的纯合突变会导致晶状体性近视、晶状体异位、青光眼、球形晶状体和身材矮小。
Am J Hum Genet. 2009 Nov;85(5):558-68. doi: 10.1016/j.ajhg.2009.09.011.
8
Bilateral acute angle closure glaucoma as a presentation of isolated microspherophakia in an adult: case report.双侧急性闭角型青光眼作为成人孤立性小晶状体的一种表现:病例报告
BMC Ophthalmol. 2006 Jul 7;6:29. doi: 10.1186/1471-2415-6-29.
9
Angle closure in younger patients.年轻患者的闭角型青光眼
Trans Am Ophthalmol Soc. 2002;100:201-12; discussion 212-4.
10
Bilateral angle closure glaucoma following general anesthesia.全身麻醉后双侧闭角型青光眼
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