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一组尼日利亚患者中斯塔加特病的临床表现及特征

Presentation and Clinical Features of Stargardt Disease in a Series of Nigerian Patients.

作者信息

Oderinlo Olufemi, Akanbi Toyin

机构信息

Department of Ophthalmology, Retina Unit, Eye Foundation Hospital, Lagos, Nigeria.

出版信息

Ann Afr Med. 2024 Oct 1;23(4):723-726. doi: 10.4103/aam.aam_40_24. Epub 2024 Aug 13.

DOI:10.4103/aam.aam_40_24
PMID:39138925
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11556497/
Abstract

Stargardt disease (SD) is a common inherited macular dystrophy. It exhibits a high degree of phenotypic and genotypic heterogeneity. Yellow-white flecks are often found in the posterior pole in the early stages of the disease with a reduction in central vision from foveal atrophy as it progresses. A characteristic dark choroid appearance is seen on fundus fluorescein angiography (FFA) in many cases, with occasional reports of choroidal neovascular membranes. We report a series of four Nigerian patients, with varied presentations diagnosed with SD in our facility. One patient had good vision, while the other three had variable degrees of reduced vision. All patients had macular atrophy and flecks, while three patients had a dark choroid appearance on FFA and one patient developed a choroidal neovascular membrane in one eye.

摘要

斯塔加特病(SD)是一种常见的遗传性黄斑营养不良。它表现出高度的表型和基因型异质性。在疾病早期,后极部常可见黄白色斑点,随着病情进展,由于黄斑萎缩,中心视力会下降。许多病例在眼底荧光血管造影(FFA)上可见特征性的脉络膜暗像,偶尔有脉络膜新生血管膜的报道。我们报告了在我们机构诊断为SD的四名尼日利亚患者系列,其表现各异。一名患者视力良好,而其他三名患者有不同程度的视力下降。所有患者均有黄斑萎缩和斑点,三名患者在FFA上有脉络膜暗像,一名患者一只眼睛出现了脉络膜新生血管膜。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e9a7/11556497/e5b3941aadcb/AAM-23-723-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e9a7/11556497/e5b3941aadcb/AAM-23-723-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e9a7/11556497/e5b3941aadcb/AAM-23-723-g001.jpg

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本文引用的文献

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CRISPR-Cas9 in hiPSCs: A new era in personalized treatment for Stargardt disease.人诱导多能干细胞中的CRISPR-Cas9:斯塔加特病个性化治疗的新时代。
Mol Ther Nucleic Acids. 2023 May 27;32:896-897. doi: 10.1016/j.omtn.2023.05.008. eCollection 2023 Jun 13.
2
Therapy Approaches for Stargardt Disease.Stargardt 病的治疗方法。
Biomolecules. 2021 Aug 9;11(8):1179. doi: 10.3390/biom11081179.
3
Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.由 ABCA4 突变引起的视网膜疾病的临床谱、遗传复杂性和治疗方法。
Prog Retin Eye Res. 2020 Nov;79:100861. doi: 10.1016/j.preteyeres.2020.100861. Epub 2020 Apr 9.
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Monitoring and Management of the Patient with Stargardt Disease.斯塔加特病患者的监测与管理
Clin Optom (Auckl). 2019 Nov 28;11:151-165. doi: 10.2147/OPTO.S226595. eCollection 2019.
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Stargardt Disease.斯特格病。
Adv Exp Med Biol. 2018;1085:139-151. doi: 10.1007/978-3-319-95046-4_27.
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Optical Coherence Tomography Angiography Findings in Stargardt Disease.斯塔加特病的光学相干断层扫描血管造影结果
PLoS One. 2017 Feb 2;12(2):e0170343. doi: 10.1371/journal.pone.0170343. eCollection 2017.
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Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options.斯塔加特病:临床特征、分子遗传学、动物模型及治疗选择
Br J Ophthalmol. 2017 Jan;101(1):25-30. doi: 10.1136/bjophthalmol-2016-308823. Epub 2016 Aug 4.
8
The Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Studies: Design and Baseline Characteristics: ProgStar Report No. 1.《继发于斯塔加特病的萎缩自然史(ProgStar)研究:设计与基线特征》:ProgStar 报告第 1 号。
Ophthalmology. 2016 Apr;123(4):817-28. doi: 10.1016/j.ophtha.2015.12.009. Epub 2016 Jan 16.
9
Intravitreal aflibercept injection and photodynamic treatment of a patient with unilateral subretinal neovascular membrane associated with fundus flavimaculatus.玻璃体内注射阿柏西普并对一名患有与黄斑病变相关的单侧视网膜下新生血管膜患者进行光动力治疗。
Case Rep Ophthalmol Med. 2015;2015:748420. doi: 10.1155/2015/748420. Epub 2015 Mar 2.
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