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一名患有RBP3基因纯合突变患者的色素性视网膜炎：病例报告

Retinitis Pigmentosa in a Patient With a Homozygous Mutation in the RBP3 Gene: A Case Report.

作者信息

Aguayo-Merly Angel, Izquierdo Natalio J

机构信息

Department of Ophthalmology, School of Medicine, Medical Sciences Campus, University of Puerto Rico, San Juan, PRI.

Department of Surgery, School of Medicine, Medical Sciences Campus, University of Puerto Rico, San Juan, PRI.

出版信息

Cureus. 2025 Jul 29;17(7):e88992. doi: 10.7759/cureus.88992. eCollection 2025 Jul.

DOI:10.7759/cureus.88992
PMID:40895869
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12393309/
Abstract

Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies characterized by progressive degeneration of the retina, leading to vision impairment. This report presents the case of a 56-year-old female patient with advanced RP caused by a homozygous genetic alteration affecting the RBP3 gene, specifically the c.802 A>T (p.Lys268*) variant. Our patient exhibited classic symptoms of night blindness, bilateral progressive vision loss, and a family history of similar symptoms. Ophthalmic evaluation, including optical coherence tomography (OCT), visual field testing, electroretinography (ERG), fluorescein angiography (FA), and genetic analysis, confirmed the diagnosis of advanced RP. Genetic testing identified the pathogenic homozygous mutation in the RBP3 gene, which, to our knowledge, has not been previously reported in the literature. This case highlights the importance of genetic testing in diagnosing retinal dystrophies, as well as the need for further studies to explore the full spectrum of RBP3-related retinal conditions.

摘要

视网膜色素变性（RP）是一组遗传性视网膜营养不良，其特征是视网膜进行性退化，导致视力受损。本报告介绍了一名56岁女性患者的病例，该患者患有晚期RP，由影响RBP3基因的纯合基因改变引起，具体为c.802 A>T（p.Lys268*）变体。我们的患者表现出夜盲、双侧进行性视力丧失等典型症状，并有类似症状的家族史。眼科评估，包括光学相干断层扫描（OCT）、视野测试、视网膜电图（ERG）、荧光素血管造影（FA）和基因分析，确诊为晚期RP。基因检测确定了RBP3基因中的致病性纯合突变，据我们所知，此前文献中尚未报道过该突变。该病例突出了基因检测在诊断视网膜营养不良中的重要性，以及进一步研究探索与RBP3相关的全谱视网膜疾病的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5db9/12393309/3da65579a844/cureus-0017-00000088992-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5db9/12393309/d05d1090435a/cureus-0017-00000088992-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5db9/12393309/b28c545bd43d/cureus-0017-00000088992-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5db9/12393309/96ccb7837d50/cureus-0017-00000088992-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5db9/12393309/0f2ee5c767b6/cureus-0017-00000088992-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5db9/12393309/3da65579a844/cureus-0017-00000088992-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5db9/12393309/d05d1090435a/cureus-0017-00000088992-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5db9/12393309/b28c545bd43d/cureus-0017-00000088992-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5db9/12393309/96ccb7837d50/cureus-0017-00000088992-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5db9/12393309/0f2ee5c767b6/cureus-0017-00000088992-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5db9/12393309/3da65579a844/cureus-0017-00000088992-i05.jpg

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本文引用的文献

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CryoEM structure and small-angle X-ray scattering analyses of porcine retinol-binding protein 3.猪视黄醇结合蛋白3的冷冻电镜结构和小角X射线散射分析
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RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.
RBP3 相关性眼病-高度近视与视网膜营养不良：遗传特征、自然病史和深度表型分析。
Am J Ophthalmol. 2024 Feb;258:119-129. doi: 10.1016/j.ajo.2023.09.025. Epub 2023 Oct 7.
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Retinitis Pigmentosa: Burden of Disease and Current Unmet Needs.视网膜色素变性：疾病负担与当前未满足的需求
Clin Ophthalmol. 2022 Jun 20;16:1993-2010. doi: 10.2147/OPTH.S365486. eCollection 2022.
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Interphotoreceptor Retinoid-Binding Protein (IRBP) in Retinal Health and Disease.视网膜健康与疾病中的光感受器间类视黄醇结合蛋白（IRBP）
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Homozygous Nonsense Mutations in RBP3 Gene Cause Early-Onset Retinal Dystrophies Associated With High Myopia.RBP3基因的纯合无义突变导致与高度近视相关的早发性视网膜营养不良。
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