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Imaging Studies VII: Vascular Imaging01:19

Imaging Studies VII: Vascular Imaging

DefinitionRenal angiography, also known as renal arteriography, is an imaging technique used to obtain a comprehensive view of blood flow and the vascular structure of blood vessels in the kidneys and surrounding areas.PurposeRenal angiography detects blood vessel abnormalities in the kidneys, such as aneurysms, stenosis, thrombosis, vascular tumors, and renal artery stenosis. It evaluates kidney function and guides interventional treatments like angioplasty or stent placement.Pre-Procedure...

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Retinal Vascular Reactivity as Assessed by Optical Coherence Tomography Angiography
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Published on: March 26, 2020

ROSAH syndrome presenting with recurrent vitreous hemorrhage: a multimodal imaging study.

Rebecca Hong1, Tiffany C S Lo1, Thomas Gordon Campbell2,3,4

  • 1Ophthalmology, Royal Victorian Eye and Ear Hospital, East Melbourne, Australia.

Ophthalmic Genetics
|March 11, 2025
PubMed
Summary

ROSAH syndrome, a rare systemic disease, presents with vision loss and other symptoms. This case highlights new imaging findings and suggests anti-VEGF therapy for macular edema as a short-term solution.

Keywords:
ALPK1inherited retinal diseasemacular edemapapilledemaposterior uveitis

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Published on: May 26, 2023

Area of Science:

  • Ophthalmology
  • Genetics
  • Systemic Diseases

Background:

  • ROSAH syndrome is an autosomal dominant systemic disease.
  • Key features include retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migrainous headache.
  • Ocular findings can mimic uveitis, vasculitis, or neuroretinitis.

Purpose of the Study:

  • To report a case of a 17-year-old female with ROSAH syndrome.
  • The patient presented with recurrent vitreous hemorrhage, dental anomalies, and anhidrosis.
  • To illustrate clinical and multimodal imaging features of ROSAH syndrome.

Main Methods:

  • Utilized spectral domain optical coherence tomography (OCT), OCT angiography (OCTA), fundus autofluorescence (FAF), ultrawide-field fluorescein angiography (FA), and electrophysiology.
  • A retinal dystrophy panel was used for genetic diagnosis.
  • Multimodal imaging was employed to characterize ocular findings.

Main Results:

  • Genetic testing confirmed ROSAH syndrome with a specific variant (c.710C>T p.Thr237Met).
  • Observed preretinal neovascularization and an expanding hyperautofluorescent ring around the optic disc.
  • Widefield OCTA showed no retinal capillary closure; macular edema responded temporarily to anti-VEGF treatment.

Conclusions:

  • This case provides new insights into the ROSAH phenotype.
  • Anti-VEGF therapy offers short-term management for ROSAH-associated macular edema.
  • Multimodal imaging is crucial for diagnosing and understanding ROSAH syndrome.