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Choroidal Neovascularization in a Female Carrier of Ocular Albinism with a GPR143 Mutation: A Case Report.

作者信息

Jang Ji Hye, Kim Sang Jin

机构信息

Department of Ophthalmology, Keimyung University School of Medicine, Daegu, Korea.

Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

出版信息

Korean J Ophthalmol. 2025 Feb;39(1):80-82. doi: 10.3341/kjo.2024.0103. Epub 2024 Dec 23.

DOI:10.3341/kjo.2024.0103
PMID:39715704
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11856020/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8cc8/11856020/eca150a1fe2d/kjo-2024-0103f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8cc8/11856020/eca150a1fe2d/kjo-2024-0103f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8cc8/11856020/eca150a1fe2d/kjo-2024-0103f1.jpg

相似文献

1
Choroidal Neovascularization in a Female Carrier of Ocular Albinism with a GPR143 Mutation: A Case Report.携带GPR143突变的眼部白化病女性携带者脉络膜新生血管形成：一例报告
Korean J Ophthalmol. 2025 Feb;39(1):80-82. doi: 10.3341/kjo.2024.0103. Epub 2024 Dec 23.
2
A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism.一个中国眼白化病家系中发现的 GPR143 基因的新型无义突变。
PLoS One. 2012;7(8):e43177. doi: 10.1371/journal.pone.0043177. Epub 2012 Aug 20.
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genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinism.对一个中国眼白化病患者队列进行基因型和眼部表型特征分析。
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Genet Mol Res. 2013 Nov 18;12(4):5673-9. doi: 10.4238/2013.November.18.16.
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[Identification of a novel GPR143 mutation in a Chinese family affected with X-linked ocular albinism].[一个患X连锁眼部白化病的中国家系中新型GPR143突变的鉴定]
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A novel GPR143 mutation in a Chinese family with X‑linked ocular albinism type 1.一个中国 X 连锁眼皮肤白化病 1 型家系中的新型 GPR143 突变。
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Arch Soc Esp Oftalmol (Engl Ed). 2019 Jun;94(6):288-292. doi: 10.1016/j.oftal.2019.01.006. Epub 2019 May 15.

本文引用的文献

1
Case series: Fundus autofluorescence abnormalities in a family of ocular albinism carriers.病例系列：眼白化病携带者家族中的眼底自发荧光异常。
Optom Vis Sci. 2024 Feb 1;101(2):117-123. doi: 10.1097/OPX.0000000000002106. Epub 2024 Jan 10.
2
Macular Findings in Carriers of Ocular Albinism With a Novel GPR143 Mutation.携带新型GPR143突变的眼白化病携带者的黄斑病变
Ophthalmic Surg Lasers Imaging Retina. 2022 Aug;53(8):460-463. doi: 10.3928/23258160-20220713-03. Epub 2022 Aug 1.
3
The retinal pigmentation pathway in human albinism: Not so black and white.
人类白化病中的视网膜色素沉着途径：并非非黑即白。
Prog Retin Eye Res. 2022 Nov;91:101091. doi: 10.1016/j.preteyeres.2022.101091. Epub 2022 Jun 18.
4
A G-Protein Coupled Receptor and Macular Degeneration.G 蛋白偶联受体与年龄相关性黄斑变性
Cells. 2020 Apr 8;9(4):910. doi: 10.3390/cells9040910.
5
Pigmentation and vision: Is GPR143 in control?色素沉着与视觉：GPR143 在控制之中吗？
J Neurosci Res. 2019 Jan;97(1):77-87. doi: 10.1002/jnr.24246. Epub 2018 May 14.