关于 LCHADD 视网膜病变最新分期系统的建议。

IF 1.2 4区 医学 Q4 GENETICS & HEREDITY
Ophthalmic Genetics Pub Date : 2024-04-01 Epub Date: 2024-01-30 DOI:10.1080/13816810.2024.2303682
Nida Wongchaisuwat, Melanie B Gillingham, Paul Yang, Lesley Everett, Ashley Gregor, Cary O Harding, Jose Alain Sahel, Ken K Nischal, Hannah L Scanga, Danielle Black, Jerry Vockley, Georgianne Arnold, Mark E Pennesi
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引用次数: 0

摘要

目的基于当代多模态成像和电生理学,为长链3-羟基乙酰辅酶A脱氢酶缺乏症(LCHADD)脉络膜视网膜病变建立一个最新的分期系统:我们对参加前瞻性自然史研究的40例经基因证实的LCHADD或三功能蛋白缺乏症(TFPD)患者进行了评估。对宽视野眼底照片、眼底自动荧光(FAF)、光学相干断层扫描(OCT)和全视野视网膜电图(ffERG)进行了审查,并对严重程度进行了分级:结果:两位独立专家首先对眼底照片和电生理学进行了分级,并根据现有的已发表系统对脉络膜视网膜病变进行了分期。随着成像模式的更新和电生理学的改进,许多患者无法完全归入单一的传统分期组。因此,我们开发了一种新的分期系统,以更好地划分 LCHADD 视网膜病变的进展过程。我们保留了之前划分的四个阶段,但在第 2 至第 3 阶段创建了 A 和 B 子阶段,以实现更好的区分:讨论:以前的 LCHADD 脉络膜视网膜病变分期系统仅依赖于对标准 30 至 45 度眼底照片、视力、荧光素血管造影 (FA) 和 ffERG 的评估。ffERG记录和视野更宽广的多模态成像技术的进步,使视网膜病变的评估更加完善。在进行了这些先进的评估后,有七名患者无法完全符合原来的分类系统,因此根据新提出的系统进行了重新分类:结论:新提出的分期系统改进了 LCHADD 脉络膜视网膜病变的分类,有可能加深对疾病进展的理解,并为未来的治疗研究提供更可靠的参考依据。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A proposal for an updated staging system for LCHADD retinopathy.

Objective: To develop an updated staging system for long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency (LCHADD) chorioretinopathy based on contemporary multimodal imaging and electrophysiology.

Methods: We evaluated forty cases of patients with genetically confirmed LCHADD or trifunctional protein deficiency (TFPD) enrolled in a prospective natural history study. Wide-field fundus photographs, fundus autofluorescence (FAF), optical coherence tomography (OCT), and full-field electroretinogram (ffERG) were reviewed and graded for severity.

Results: Two independent experts first graded fundus photos and electrophysiology to classify the stage of chorioretinopathy based upon an existing published system. With newer imaging modalities and improved electrophysiology, many patients did not fit cleanly into a single traditional staging group. Therefore, we developed a novel staging system that better delineated the progression of LCHADD retinopathy. We maintained the four previous delineated stages but created substages A and B in stages 2 to 3 to achieve better differentiation.

Discussion: Previous staging systems of LCHADD chorioretinopathy relied on only on the assessment of standard 30 to 45-degree fundus photographs, visual acuity, fluorescein angiography (FA), and ffERG. Advances in recordings of ffERG and multimodal imaging with wider fields of view, allow better assessment of retinal changes. Following these advanced assessments, seven patients did not fit neatly into the original classification system and were therefore recategorized under the new proposed system.

Conclusion: The new proposed staging system improves the classification of LCHADD chorioretinopathy, with the potential to lead to a deeper understanding of the disease's progression and serve as a more reliable reference point for future therapeutic research.

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来源期刊
Ophthalmic Genetics
Ophthalmic Genetics 医学-眼科学
CiteScore
2.40
自引率
8.30%
发文量
126
审稿时长
>12 weeks
期刊介绍: Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.
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