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

Anna Jiang1, Licong Liang1, Kaiqin She1

  • 1Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.

Frontiers in Medicine
|September 13, 2024
PubMed
Summary

Familial iris flocculi, a rare eye condition, is linked to mutations in the ACTA2 gene. This study identifies a specific ACTA2 mutation (p. Arg149Cys) in three generations, highlighting its role in this inherited disorder.

Keywords:
ACTA2 genecolor photographs of the irisfamilial thoracic aortic aneurysm and aortic dissection (TAAD)fundus angiography (FA)iris flocculioptical coherence tomography (OCT)

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