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Goldenhar综合征中的双侧视网膜脱离。

Bilateral retinal detachment in Goldenhar syndrome.

作者信息

Dorji Phuntsho, Ramappa Muralidhar, Takkar Brijesh

机构信息

Smt Kanuri Santhamma Center for Vitreoretinal Diseases, L.V. Prasad Eye Institute, Hyderabad, Telangana, India.

Center of Excellence for Rare Eye Diseases, L V Prasad Eye Institute, Hyderabad, Telangana, India.

出版信息

Indian J Ophthalmol. 2020 Nov;68(11):2585-2586. doi: 10.4103/ijo.IJO_401_20.

DOI:10.4103/ijo.IJO_401_20
PMID:33120701
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7774174/
Abstract

The ocular features of Goldenhar syndrome (GS) are typically external, like surface dermoids and lid coloboma. Retinal detachment (RD) is rare and has not been reported in absence of other concomitant predisposing congenital ocular disorders. We present a unique case of bilateral rhegmatogenous retinal detachment (RRD) with GS. To the best of our knowledge, this association of GS with RRD is novel and has not been reported earlier in ophthalmic and systemic literature on RRD.

摘要

Goldenhar综合征(GS)的眼部特征通常是外在的,如表层皮样瘤和眼睑缺损。视网膜脱离(RD)很少见,在没有其他伴随的先天性眼部疾病易患因素的情况下尚未有报道。我们报告了一例患有GS的双侧孔源性视网膜脱离(RRD)的独特病例。据我们所知,GS与RRD的这种关联是新颖的,在关于RRD的眼科和全身性文献中尚未有更早的报道。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8eb1/7774174/b6c9e3f715c9/IJO-68-2585-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8eb1/7774174/b6c9e3f715c9/IJO-68-2585-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8eb1/7774174/b6c9e3f715c9/IJO-68-2585-g001.jpg

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引用本文的文献

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An Atypical Presentation of Goldenhar Syndrome With Seizures: A Rare Case Report.伴有癫痫发作的Goldenhar综合征非典型表现:一例罕见病例报告
Cureus. 2023 Oct 7;15(10):e46627. doi: 10.7759/cureus.46627. eCollection 2023 Oct.

本文引用的文献

1
A Case of Goldenhar Syndrome Associated with a New Retinal Presentation: Exudative Vitelliform Maculopathy.一例与新的视网膜表现相关的Goldenhar综合征:渗出性卵黄样黄斑病变。
Case Rep Ophthalmol Med. 2015;2015:626027. doi: 10.1155/2015/626027. Epub 2015 May 3.
2
Goldenhar syndrome - review with case series.Goldenhar综合征——病例系列综述
J Clin Diagn Res. 2014 Apr;8(4):ZD17-9. doi: 10.7860/JCDR/2014/7926.4260. Epub 2014 Apr 15.
3
Goldenhar syndrome with rare associations.伴有罕见关联的Goldenhar综合征。
Indian J Pediatr. 2000 Mar;67(3):231-3. doi: 10.1007/BF02723669.
4
Coloboma of the iris and choroid and retinal detachment in oculo-auricular dysplasia (Goldenhar syndrome).
Eye Ear Nose Throat Mon. 1972 Oct;51(10):384-6.