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RPGR基因突变所致视网膜色素变性患者脉络膜毛细血管血管密度分析

Analysis of choriocapillaris vascular density in patients with retinitis pigmentosa caused by RPGR gene mutations.

作者信息

Gesualdo Carlo, Rossi Settimio, Iodice Clemente Maria, Melillo Paolo, Marano Ernesto, Giudice Antonio Del, Di Martino Mauro, Testa Francesco, Simonelli Francesca

机构信息

Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy.

出版信息

BMC Ophthalmol. 2025 Jul 1;25(1):351. doi: 10.1186/s12886-025-04163-z.

DOI:10.1186/s12886-025-04163-z
PMID:40597960
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12211357/
Abstract

BACKGROUND

Anatomic features characterizing the onset and progression of Retinitis Pigmentosa (RP) are still not clear and increasing interest has grown towards the impaired retinal flow in such disease. However, to date there are still few and inconsistent data exploring the changes reflected in vascular plexuses during the disease course, in particular regarding Choriocapillaris (CC). Therefore, the purpose of this study aimed at evaluating the CC perfusion in a cohort of males with -related X-Linked RP (XLRP).

METHODS

Best corrected visual acuity (BCVA), color fundus photograph, fundus autofluorescence (FAF), optical coherence tomography (OCT), OCT-angiography (OCTA) and microperimetry (MP) were performed in 13 XLRP patients (22 eyes) harboring mutations in . The percent perfused CC area (PPCA) was analyzed and correlated with the phenotypic variables and mutation location. Moreover, the PPCA of -related XLRP patients was compared with age-matched healthy controls.

RESULTS

The PPCA of the cases was 25.4% ± 7.5%, while controls displayed a PPCA of 32.3% ± 6.1% ( < 0.002). Moreover, PPCA appeared to be not significantly correlated with any of the anatomical and functional parameters analyzed, nor with the age of the patients, the duration of the disease and with the genotype.

CONCLUSIONS

The PPCA resulted significantly reduced in patients with -related XLRP when compared to age-matched healthy controls.

摘要

背景

视网膜色素变性（RP）发病及进展的解剖学特征仍不明确，人们对该疾病中视网膜血流受损的关注度日益增加。然而，迄今为止，探索疾病过程中血管丛所反映变化的数据仍然很少且不一致，特别是关于脉络膜毛细血管（CC）的变化。因此，本研究旨在评估一组患有X连锁RP（XLRP）男性患者的CC灌注情况。

方法

对13例携带 突变的XLRP患者（22只眼）进行最佳矫正视力（BCVA）、彩色眼底照片、眼底自发荧光（FAF）、光学相干断层扫描（OCT）、OCT血管造影（OCTA）和微视野检查（MP）。分析灌注的CC面积百分比（PPCA），并将其与表型变量和突变位置相关联。此外，将与 相关的XLRP患者的PPCA与年龄匹配的健康对照进行比较。

结果

病例组的PPCA为25.4%±7.5%，而对照组的PPCA为32.3%±6.1%（ ＜0.002）。此外，PPCA似乎与所分析的任何解剖和功能参数均无显著相关性，也与患者年龄、疾病持续时间和基因型无关。

结论

与年龄匹配的健康对照相比，与 相关的XLRP患者的PPCA显著降低。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d18/12211357/1ee4e63b0729/12886_2025_4163_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d18/12211357/1c1274f67076/12886_2025_4163_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d18/12211357/d4528a6a2d8c/12886_2025_4163_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d18/12211357/907e3c34f0ad/12886_2025_4163_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d18/12211357/d5060ef2063f/12886_2025_4163_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d18/12211357/298cfc48a9bc/12886_2025_4163_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d18/12211357/1ee4e63b0729/12886_2025_4163_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d18/12211357/1c1274f67076/12886_2025_4163_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d18/12211357/d4528a6a2d8c/12886_2025_4163_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d18/12211357/907e3c34f0ad/12886_2025_4163_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d18/12211357/d5060ef2063f/12886_2025_4163_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d18/12211357/298cfc48a9bc/12886_2025_4163_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d18/12211357/1ee4e63b0729/12886_2025_4163_Fig6_HTML.jpg

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本文引用的文献

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J Clin Med. 2023 Apr 28;12(9):3170. doi: 10.3390/jcm12093170.
2
Choriocapillaris flow loss in center-involving retinitis pigmentosa: a quantitative optical coherence tomography angiography study using a novel classification system.中心性渗出性脉络膜视网膜病变中脉络膜毛细血管血流丧失：使用新型分类系统的定量光相干断层扫描血管造影研究。
Graefes Arch Clin Exp Ophthalmol. 2021 Nov;259(11):3235-3242. doi: 10.1007/s00417-021-05223-y. Epub 2021 May 31.
3
Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations.
X 连锁性视网膜炎色素变性患者因 RPGR 基因突变所致疾病严重程度谱。
Invest Ophthalmol Vis Sci. 2020 Dec 1;61(14):36. doi: 10.1167/iovs.61.14.36.
4
Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR.首例人类基因治疗试验的初步结果，该试验针对由 RPGR 基因突变引起的 X 连锁性视网膜炎色素变性。
Nat Med. 2020 Mar;26(3):354-359. doi: 10.1038/s41591-020-0763-1. Epub 2020 Feb 24.
5
Widefield Swept Source OCTA in Retinitis Pigmentosa.视网膜色素变性中的超广角扫频源光学相干断层扫描血管造影
Diagnostics (Basel). 2020 Jan 19;10(1):50. doi: 10.3390/diagnostics10010050.
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8
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