Multimodal optical imaging of iris flocculi in three consecutive generations: a case report

We reported one case of familial iris flocculi caused by a heterozygous missense mutation in <i>ACTA2</i> (p. Arg149Cys) and presented multimodal optical images of both the iris and fundus in three consecutive generations. This case report enriched the clinical features of retinal vasculature and macula associated with the mutation in the amino acid 149 of the <i>ACTA2</i> gene.

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Publication Details

Journal
Frontiers in Medicine
Published
2024-08-29
DOI
https://doi.org/10.3389/fmed.2024.1369884
Citations
1
Primary Topic
Aortic aneurysm repair treatments
Type
article
Field-Weighted Citation Impact
0.42
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article

Multimodal optical imaging of iris flocculi in three consecutive generations: a case report

Anna Jiang, Kaiqin She, Licong Liang, Fang Lü
1 citations
Frontiers in Medicine
Aortic aneurysm repair treatments
0.42
article

Multimodal optical imaging of iris flocculi in three consecutive generations: a case report

Anna Jiang, Kaiqin She, Licong Liang, Fang Lü
article en
1 citations

Abstract

We reported one case of familial iris flocculi caused by a heterozygous missense mutation in <i>ACTA2</i> (p. Arg149Cys) and presented multimodal optical images of both the iris and fundus in three consecutive generations. This case report enriched the clinical features of retinal vasculature and macula associated with the mutation in the amino acid 149 of the <i>ACTA2</i> gene.

Frontiers in MedicineVol. 11
Sichuan University (CN), West China Hospital of Sichuan University (CN)
Good health and well-being
Openalex Percentile: Top 34%
Aortic aneurysm repair treatments
0.42
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