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Article

Iris anomalies and the incidence of ACTA2 mutation.

The British journal of ophthalmology - 1 Apr 2019

Taubenslag Kenneth J, Scanga Hannah L, Huey Jennifer, Lee Jennifer, Medsinge Anagha, Sylvester Christin L, Cheng Kenneth P, Nischal Ken K

Abstract excerpt

BACKGROUND: Central cysts of the iris pigment epithelium, or iris flocculi, are frequently reported in the literature in association with thoracic aortic aneurysm and dissection due to smooth muscle alpha-actin 2 (ACTA2) mutations. Children with ACTA2 mutations may also present with congenital mydriasis. We report our experience regarding the frequency of ACTA2 mutation in children with the above iris anomalies....

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Source

Identifiers

PMID: 29875232
DOI: 10.1136/bjophthalmol-2018-312306

Genes

ACTA2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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