You are here

Article Text

Article menu
Download PDFPDF
Case Reports: Findings that shed new light on the possible pathogenesis of a disease
In vivo angle dysgenesis in PHACE syndrome with developmental glaucoma
  1. Toshit Varshney,
  2. Sai Vineeth Maddu,
  3. Kanchangouri Satpute and
  4. Dewang Angmo
  1. Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, Delhi, Delhi, India
  1. Correspondence to Dr Dewang Angmo; dewang45{at}gmail.com

Abstract

A girl in middle childhood presented with glaucoma in her right eye along with segmental haemangiomas on the right side of the face and neck. Magnetic resonance angiography of the brain showed hypoplasia of the right internal carotid artery, leading to the diagnosis of posterior fossa malformations, haemangioma, arterial anomalies, cardiac defects and eye abnormalities (PHACE) syndrome. High-definition anterior segment ocular coherence tomography (AS-OCT) of the right eye showed an absence of Schlemm’s canal and a hyperreflective membrane over the trabecular meshwork. The presence of this angle dysgenesis on AS-OCT, a novel finding in this disease, explained the elevated intraocular pressure in the right eye. The embryological basis for the development of angle dysgenesis might help better understand the pathogenesis of PHACE syndrome.

  • Glaucoma
  • Ophthalmology

https://doi.org/10.1136/bcr-2023-255434

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    View Full Text

    Footnotes

    • X @tvarshney

    • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content: TV, SVM and KS. The following authors gave final approval of the manuscript: TV and DA.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.