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

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.