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与EYS基因突变相关的色素性视网膜炎：疾病严重程度分期及视网膜中央萎缩

Retinitis Pigmentosa Associated with EYS Gene Mutations: Disease Severity Staging and Central Retina Atrophy.

作者信息

Placidi Giorgio, Maltese Paolo Enrico, Savastano Maria Cristina, D'Agostino Elena, Cestrone Valentina, Bertelli Matteo, Chiurazzi Pietro, Maceroni Martina, Minnella Angelo Maria, Ziccardi Lucia, Parisi Vincenzo, Rizzo Stanislao, Falsini Benedetto

机构信息

Ophthalmology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Largo Gemelli 8, 00168 Rome, Italy.

Ophthalmology Unit, Catholic University of the Sacred Heart, Largo Francesco Vito 1, 00168 Rome, Italy.

出版信息

Diagnostics (Basel). 2023 Feb 23;13(5):850. doi: 10.3390/diagnostics13050850.

DOI:10.3390/diagnostics13050850
PMID:36899994
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10000790/
Abstract

BACKGROUND

Eyes shut homolog (EYS) gene mutations are estimated to affect at least 5% of patients with autosomal recessive retinitis pigmentosa. Since there is no mammalian model of human EYS disease, it is important to investigate its age-related changes and the degree of central retinal impairment.

METHODS

A cohort of EYS patients was studied. They underwent full ophthalmic examination as well as assessment of retinal function and structure, by full-field and focal electroretinograms (ERGs) and spectral domain optical coherence tomography (OCT), respectively. The disease severity stage was determined by the RP stage scoring system (RP-SSS). Central retina atrophy (CRA) was estimated from the automatically calculated area of the sub-retinal pigment epithelium (RPE) illumination (SRI).

RESULTS

The RP-SSS was positively correlated with age, showing an advanced severity score (≥8) at an age of 45 and a disease duration of 15 years. The RP-SSS was positively correlated with the CRA area. LogMAR visual acuity and ellipsoid zone width, but not ERG, were correlated with CRA.

CONCLUSIONS

In EYS-related disease, the RP-SSS showed advanced severity at a relative early age and was correlated with the central area of the RPE/photoreceptor atrophy. These correlations may be relevant in view of therapeutic interventions aimed at rescuing rods and cones in EYS-retinopathy.

摘要

背景

据估计，眼睛闭合同源物（EYS）基因突变影响至少5%的常染色体隐性视网膜色素变性患者。由于缺乏人类EYS疾病的哺乳动物模型，研究其与年龄相关的变化以及视网膜中央损伤程度具有重要意义。

方法

对一组EYS患者进行了研究。他们分别接受了全面的眼科检查以及通过全视野和焦点视网膜电图（ERG）和光谱域光学相干断层扫描（OCT）对视网膜功能和结构的评估。疾病严重程度阶段由视网膜色素变性阶段评分系统（RP-SSS）确定。中央视网膜萎缩（CRA）通过自动计算的视网膜色素上皮（RPE）光照区域（SRI）进行估计。

结果

RP-SSS与年龄呈正相关，在45岁且病程为15年时显示出较高的严重程度评分（≥8）。RP-SSS与CRA面积呈正相关。LogMAR视力和椭圆体带宽度与CRA相关，但ERG与CRA不相关。

结论

在EYS相关疾病中，RP-SSS在相对较早的年龄显示出较高的严重程度，并且与RPE/光感受器萎缩的中央区域相关。鉴于旨在挽救EYS视网膜病变中视杆和视锥细胞的治疗干预措施，这些相关性可能具有重要意义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/478d/10000790/527660863b36/diagnostics-13-00850-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/478d/10000790/0b69096c5247/diagnostics-13-00850-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/478d/10000790/e36e2e68d4f4/diagnostics-13-00850-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/478d/10000790/7e94eccfa935/diagnostics-13-00850-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/478d/10000790/527660863b36/diagnostics-13-00850-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/478d/10000790/0b69096c5247/diagnostics-13-00850-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/478d/10000790/e36e2e68d4f4/diagnostics-13-00850-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/478d/10000790/7e94eccfa935/diagnostics-13-00850-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/478d/10000790/527660863b36/diagnostics-13-00850-g004.jpg

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本文引用的文献

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Sci Rep. 2022 Dec 13;12(1):21494. doi: 10.1038/s41598-022-26017-0.
2
Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG.双等位基因TULP1变体c.148delG所致视网膜营养不良的自然病史和生物标志物
Acta Ophthalmol. 2023 Mar;101(2):215-221. doi: 10.1111/aos.15252. Epub 2022 Sep 21.
3
Automated Identification of Incomplete and Complete Retinal Epithelial Pigment and Outer Retinal Atrophy Using Machine Learning.
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Sci Rep. 2024 Aug 10;14(1):18580. doi: 10.1038/s41598-024-69640-9.
使用机器学习自动识别不完全和完全视网膜色素上皮和外层视网膜萎缩。
Ophthalmol Retina. 2023 Feb;7(2):118-126. doi: 10.1016/j.oret.2022.08.016. Epub 2022 Aug 19.
4
Genotypes Influence Clinical Progression in EYS-Associated Retinitis Pigmentosa.基因型影响 EYS 相关性视网膜炎色素变性的临床进展。
Transl Vis Sci Technol. 2022 Jul 8;11(7):6. doi: 10.1167/tvst.11.7.6.
5
Personalized Atrophy Risk Mapping in Age-Related Macular Degeneration.年龄相关性黄斑变性的个性化萎缩风险测绘。
Transl Vis Sci Technol. 2021 Nov 1;10(13):18. doi: 10.1167/tvst.10.13.18.
6
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7
Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy.解析 EYS 在视网膜变性中的作用：临床和分子方面及其对未来治疗的影响。
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8
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J Clin Med. 2020 Sep 15;9(9):2973. doi: 10.3390/jcm9092973.