ACTA2 R179H致病性变异患儿视网膜影像学新发现

IF 1 4区医学 Q4 GENETICS & HEREDITY

Ophthalmic Genetics Pub Date : 2025-07-07 DOI:10.1080/13816810.2025.2528041

Lyvia J Zhang, Sandra Hoyek, Anna Lynch, John B Miller, Ryan Gise, Patricia L Musolino, Nimesh A Patel

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引用次数: 0

摘要

目的：报告1例小儿ACTA2 r179h50致病变异的临床和影像学特征。病例报告：一名患有致病性ACTA2变异的儿童患者表现为多系统52症状，眼底摄影、荧光素53血管造影和光学相干断层扫描血管造影显示视网膜血管明显扭曲。结论：无创视网膜成像（包括OCTA）可作为儿科患者55种疾病严重程度的生物标志物。这种方法可以随时间密切监测任何血管变化。

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Novel retinal imaging findings in a pediatric patient with de novo ACTA2 R179H pathogenic variant.

Purpose: To report clinical and imaging features of a pediatric patient with ACTA2 R179H 50 pathogenic variant using multimodal imaging.

Case report: A pediatric patient with a pathogenic ACTA2 variant presented with multisystemic 52 symptoms and prominently tortuous retinal vessels as seen on fundus photography, fluorescein 53 angiography, and optical coherence tomography angiography.

Conclusion: Non-invasive retinal imaging, including OCTA, may serve as a biomarker of 55 disease severity in pediatric patients. This approach allows for close monitoring of any vascular 56 changes over time.

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来源期刊

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.