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Oliver McFarlane syndrome and choroidal neovascularisation: a case report.
Ophthalmic Genetics ( IF 1.2 ) Pub Date : 2020-06-25 , DOI: 10.1080/13816810.2020.1783689
Aruni Kumari Makuloluwa 1 , Rutika Dodeja 1, 2 , Michalis Georgiou 3, 4 , Jose Gonzalez-Martin 2 , Richard Hagan 5 , Savita Madhusudhan 1 , Michel Michaelides 3, 4
Affiliation  

Background

Oliver McFarlane syndrome (OMS) is a rare autosomal recessive disorder characterised by pigmentary chorioretinal atrophy with no previous reports of choroidal neovascularisation (CNV).

Material and Methods

We describe the history, findings of clinical examination, retinal imaging and electrodiagnostic studies, and the treatment of a patient with CNV secondary to OMS.

Case Description

CNV secondary to OMS was diagnosed in a ten-year-old white female who presented with reduced visual acuity and a macular haemorrhage in her right eye. CNV was confirmed on optical coherence tomography. She was initially treated with a single injection of intravitreal bevacizumab and 2 years later with an injection of intravitreal ranibizumab for a recurrence. Although macular scarring secondary to the CNV was observed, her vision has stabilised and she continues to be closely monitored.

Conclusion

We report the first case of CNV secondary to OMS and its successful treatment with intravitreal anti-vascular endothelial growth factor injections.



中文翻译:

奥利弗·麦克法兰综合征和脉络膜新生血管形成:病例报告。

背景

奥利弗·麦克法兰综合症(OMS)是一种罕见的常染色体隐性遗传疾病,其特征是色素性脉络膜视网膜萎缩,以前没有关于脉络膜新生血管形成(CNV)的报道。

材料与方法

我们描述了病史,临床检查结果,视网膜影像学和电诊断研究,以及继发于OMS的CNV患者的治疗。

案例描述

OMS继发的CNV被诊断为一名十岁的白人女性,该女性表现出视力下降和右眼黄斑出血。在光学相干断层扫描中确认了CNV。最初,她单次注射玻璃体内贝伐单抗治疗,两年后再次注射玻璃体内兰尼单抗治疗。尽管观察到了继发于CNV的黄斑瘢痕,但她的视力已经稳定,并且继续受到密切监视。

结论

我们报告了第一例CNV继发于OMS的情况,并成功注射了玻璃体内抗血管内皮生长因子注射液。

更新日期:2020-06-25
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