Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Ophthalmic genetics - 1 Dec 2025

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

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Actins
Share to Adolescent
Share to Fluorescein Angiography

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to ACTA2 gene

Share to Multimodal Imaging

Share to Mutation

Share to Retinal Vessels

Share to Tomography, Optical Coherence

Source

Identifiers

PMID: 40620037
DOI: 10.1080/13816810.2025.2528041

Genes

ACTA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel retinal imaging findings in a pediatric patient with de novo ACTA2 R179H pathogenic variant.PMID 40620037Read ↗

Cerebral arteriopathy associated with Arg179His ACTA2 mutation.Semantic proximity Read ↗

Cerebral arteriopathy associated with Arg179His ACTA2 mutation.Semantic proximity Read ↗

Imaging in inherited retinal disorders.Semantic proximity Read ↗

Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings.Semantic proximity Read ↗

"Twig-like" cerebral vessels are not pathognomonic for ACTA A2 mutations: A case report.Semantic proximity Read ↗

Germline genetic mutations in pediatric cerebrovascular anomalies: a multidisciplinary approach to screening, testing, and management.Semantic proximity Read ↗

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations.Semantic proximity Read ↗

Fixed dilated pupils: Clues to an ACTA2 mutation allowing early stroke prevention.Semantic proximity Read ↗

Incontinentia pigmenti with retinal vascular anomaly and deletion of exons 4-10 in NEMO.Semantic proximity Read ↗

Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation.Semantic proximity Read ↗

Cerebral arteriopathy and ischemic stroke in a pediatric MYH11 patientSemantic proximity Read ↗

Clinical spectrum of capillary malformation-arteriovenous malformation syndrome presenting to a pediatric dermatology practice: a retrospective study.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.