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眼底自发荧光在迟发性视网膜色素变性(LORP)诊断中的作用。

The role of fundus autofluorescence in late-onset retinitis pigmentosa (LORP) diagnosis.

作者信息

Lee Tamara J, Hwang John C, Chen Royce W S, Lima Luiz H, Wang Nan-Kai, Tosi Joaquin, Freund K Bailey, Yannuzzi Lawrence A, Tsang Stephen H

机构信息

Cleveland Clinic Lerner College of Medicine, Case Western Reserve University , Cleveland, OH , USA .

出版信息

Ophthalmic Genet. 2014 Sep;35(3):170-9. doi: 10.3109/13816810.2013.800891. Epub 2013 Jul 30.

DOI:10.3109/13816810.2013.800891
PMID:23899229
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4377133/
Abstract

PURPOSE

To demonstrate the utility and characteristics of fundus autofluorescence in late-onset retinitis pigmentosa.

METHODS

Observational case series. Patients diagnosed with late-onset retinitis pigmentosa were identified retrospectively in an institutional setting. Twelve eyes of six patients were identified and medical records were reviewed.

RESULTS

All patients presented with slowly progressive peripheral field loss and initial clinical examination revealed only subtle retinal changes. There was a notable lack of intraretinal pigment migration in all patients. Five out of six patients underwent magnetic resonance imaging of the brain to rule out intracranial processes and all were referred from another ophthalmologist for further evaluation. Fundus autofluorescence was ultimately employed in all patients and revealed more extensive retinal pathology than initially appreciated on clinical examination. Fundus autofluorescence directed the workup toward a retinal etiology in all cases and led to the eventual diagnosis of late-onset retinitis pigmentosa through electroretinogram testing.

CONCLUSION

Fundus autofluorescence may be a more sensitive marker for retinal pathology than stereo fundus biomicroscopy alone in late-onset retinitis pigmentosa. Early use of fundus autofluorescence imaging in the evaluation of patients with subtle retinal lesions and complaints of peripheral field loss may be an effective strategy for timely and cost-efficient diagnosis.

摘要

目的

证明眼底自发荧光在迟发性视网膜色素变性中的效用和特征。

方法

观察性病例系列。在一个机构环境中对被诊断为迟发性视网膜色素变性的患者进行回顾性识别。确定了6例患者的12只眼,并对病历进行了审查。

结果

所有患者均表现为缓慢进展的周边视野缺损,初始临床检查仅发现细微的视网膜变化。所有患者均明显缺乏视网膜内色素迁移。6例患者中有5例接受了脑部磁共振成像以排除颅内病变,所有患者均由另一位眼科医生转诊以进行进一步评估。最终所有患者均采用了眼底自发荧光检查,结果显示视网膜病变比临床检查最初发现的更为广泛。眼底自发荧光在所有病例中都将检查导向视网膜病因,并通过视网膜电图测试最终确诊为迟发性视网膜色素变性。

结论

在迟发性视网膜色素变性中,眼底自发荧光可能是比单纯立体眼底生物显微镜检查更敏感的视网膜病变标志物。在评估有细微视网膜病变和周边视野缺损主诉的患者时早期使用眼底自发荧光成像可能是一种及时且具有成本效益的诊断有效策略。

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本文引用的文献

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Phenotype-genotype correlations in autosomal dominant retinitis pigmentosa caused by RHO, D190N.由RHO基因D190N突变引起的常染色体显性遗传性视网膜色素变性中的表型-基因型相关性
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Lipofuscin- and melanin-related fundus autofluorescence visualize different retinal pigment epithelial alterations in patients with retinitis pigmentosa.脂褐素和黑色素相关的眼底自发荧光在色素性视网膜炎患者中显示不同的视网膜色素上皮改变。
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Fundus autofluorescence imaging: review and perspectives.眼底自发荧光成像:综述与展望。
Retina. 2008 Mar;28(3):385-409. doi: 10.1097/IAE.0b013e318164a907.
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Non-vascular vision loss in pseudoxanthoma elasticum.弹性假黄瘤中的非血管性视力丧失。
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Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update.表现为黄斑旁高密度眼底自发荧光环异常的视网膜营养不良患者的功能特征;综述与更新
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