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多发性硬化症性白点状脉络视网膜病变的多模态研究与处理。

A multimodal study and management of retinitis punctata albescens.

机构信息

Institut Català de Retina, Barcelona, Spain.

Postgraduate and Doctorate School, University of Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain.

出版信息

Rom J Ophthalmol. 2020 Apr-Jun;64(2):213-216.

Abstract

To study disease progression and visual function in a patient with retinitis punctata albescens (RPA). Observational case report. The retinaldehyde-binding protein 1 gene (RLBP1) was analyzed by direct genomic sequencing. A complete ophthalmologic examination was performed. Mutations in the RLBP1 gene were identified in the patient. The patient's fundus (OF) showed numerous white dots with diffuse retinal mottling. Her visual function deteriorated progressively during the follow-up. Optical coherence tomography (OCT) demonstrated bilateral cystic macular edema that worsened if the patient stopped dorzolamide topical therapy. The multimodal study is useful in the characterization of retinal dystrophies, in association with neurophysiological tests. Degenerative changes of the outer retina were detected by OCT. RPA = Retinitis punctata albescens, RP = retinitis pigmentosa, IOP = Intraocular Pressure, BCVA = Best Corrected Visual Acuity, OD = right eye, OS = left eye, OU = both eyes, BMC = biomicroscopy, AF = autofluorescence, OF = ocular fundus, ERG = electroretinogram, OCT = optical coherence tomography, VF = visual field, VEP = visual evoked potentials, CME = cystic macular edema, MD = mean deviation, RLBP1 = retinaldehyde-binding protein 1.

摘要

研究视网膜色素变性点状和白色斑点(RPA)患者的疾病进展和视觉功能。观察性病例报告。通过直接基因组测序分析视黄醛结合蛋白 1 基因(RLBP1)。进行了全面的眼科检查。在患者中发现 RLBP1 基因发生突变。患者眼底(OF)出现许多白点,弥漫性视网膜斑点。在随访过程中,她的视力逐渐恶化。光学相干断层扫描(OCT)显示双侧囊状黄斑水肿,如果患者停止使用多佐胺局部治疗,病情会恶化。多模态研究有助于与神经生理学测试一起对视网膜营养不良进行特征描述。OCT 检测到外视网膜的退行性变化。RPA=视网膜色素变性点状和白色斑点,RP=视网膜色素变性,IOP=眼内压,BCVA=最佳矫正视力,OD=右眼,OS=左眼,OU=双眼,BMC=生物显微镜检查,AF=自发荧光,OF=眼部眼底,ERG=视网膜电图,OCT=光学相干断层扫描,VF=视野,VEP=视觉诱发电位,CME=囊状黄斑水肿,MD=平均偏差,RLBP1=视黄醛结合蛋白 1。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4573/7339689/4b67fa9e2558/RomJOphthalmol-64-213-g001.jpg

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本文引用的文献

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A homozygous frameshift mutation in LRAT causes retinitis punctata albescens.
Ophthalmology. 2012 Sep;119(9):1899-906. doi: 10.1016/j.ophtha.2012.02.037. Epub 2012 May 3.
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Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens.
Am J Ophthalmol. 2005 Jun;139(6):1133-5. doi: 10.1016/j.ajo.2004.12.011.
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