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Published VersionCC BY V4.0, Open Access
Journal article
ROSAH syndrome presenting with recurrent vitreous hemorrhage: a multimodal imaging study
Ophthalmic Genetics, Vol.46(3), pp.313-317
2025
PMID: 40069099
Abstract
Background: ROSAH syndrome is an autosomal dominant systemic disease featuring retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis and migrainous headache. Ocular manifestation of ROSAH syndrome can simulate posterior uveitis, vasculitis, generalized retinal dystrophy and neuroretinitis.
Purpose: To report a case of a 17-year-old female presenting with recurrent vitreous hemorrhage on a background of dental anomalies and anhidrosis. Materials and Methods: This case report illustrates the clinical findings and multimodal imaging features including spectral domain optical coherence tomography (OCT), OCT angiography (OCTA), fundus autofluorescence (FAF), ultrawide-field Optos fluorescein angiography (FA) and electrophysiology.
Results: A retinal dystrophy panel detected the c.710C>T p.Thr237Met variant, confirming genetic diagnosis of ROSAH syndrome. This case further elaborates, by way of multimodal imaging, on two striking features recently described in the literature-preretinal neovascularisation around the disc and along the vascular arcades, as well as an isolated expanding hyperautofluorescent ring around the disc. The use of widefield OCTA complemented the findings of FA in demonstrating the lack of retinal capillary closure. The macular edema was responsive to anti-vascular endothelium growth factor (anti-VEGF) injection, however only for a period of 6-weeks before reoccurrence.
Conclusions: This report provides new insights into ROSAH phenotype. Anti-VEGF can be considered as a short-term treatment for ROSAH-associated macular edema.
Details
- Title
- ROSAH syndrome presenting with recurrent vitreous hemorrhage: a multimodal imaging study
- Authors
- Rebecca Hong - The Royal Victorian Eye & Ear HospitalTiffany C. S. Lo - The Royal Victorian Eye & Ear HospitalThomas Gordon Campbell - University of the Sunshine Coast, Queensland, UniSC Clinical Trials CentreEmily Caruso - Centre for Eye Research AustraliaJennifer A. Thompson - Sir Charles Gairdner HospitalFred K. Chen (Corresponding Author) - The Royal Victorian Eye & Ear HospitalNandini Singh - The Royal Victorian Eye & Ear Hospital
- Publication details
- Ophthalmic Genetics, Vol.46(3), pp.313-317
- Publisher
- Taylor & Francis Inc.
- Date published
- 2025
- DOI
- 10.1080/13816810.2025.2474024
- ISSN
- 1744-5094; 1381-6810
- PMID
- 40069099
- Copyright note
- © 2025 The Author(s). Published with license by Taylor & Francis Group, LLC. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The terms on which this article has been published allow the posting of the Accepted Manuscript in a repository by the author(s) or with their consent.
- Organisation Unit
- UniSC Clinical Trials Centre
- Language
- English
- Record Identifier
- 991127098802621
- Output Type
- Journal article
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- Domestic collaboration
- Web Of Science research areas
- Genetics & Heredity
- Ophthalmology
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