Hong Rebecca, Lo Tiffany C S, Campbell Thomas Gordon, Caruso Emily, Thompson Jennifer A, Chen Fred K, Singh Nandini
Ophthalmology, Royal Victorian Eye and Ear Hospital, East Melbourne, Australia.
Ophthalmology, Centre for Eye Research Australia, East Melbourne, Australia.
Ophthalmic Genet. 2025 Jun;46(3):313-317. doi: 10.1080/13816810.2025.2474024. Epub 2025 Mar 11.
ROSAH syndrome is an autosomal dominant systemic disease featuring etinal dystrophy, ptic nerve edema, plenomegaly, nhidrosis and migrainous eadache. Ocular manifestation of ROSAH syndrome can simulate posterior uveitis, vasculitis, generalized retinal dystrophy and neuroretinitis.
To report a case of a 17-year-old female presenting with recurrent vitreous hemorrhage on a background of dental anomalies and anhidrosis.
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.
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.
This report provides new insights into ROSAH phenotype. Anti-VEGF can be considered as a short-term treatment for ROSAH-associated macular edema.
ROSAH综合征是一种常染色体显性全身性疾病，其特征为视网膜营养不良、视神经水肿、脾肿大、无汗和偏头痛性头痛。ROSAH综合征的眼部表现可类似后葡萄膜炎、血管炎、全身性视网膜营养不良和视神经视网膜炎。
报告一例17岁女性，在存在牙齿异常和无汗的背景下反复发生玻璃体积血。
本病例报告阐述了临床发现以及多模态成像特征，包括频域光学相干断层扫描（OCT）、OCT血管造影（OCTA）、眼底自发荧光（FAF）、超广角Optos荧光素血管造影（FA）和电生理检查。
视网膜营养不良检测面板检测到c.710C>T p.Thr237Met变异，证实了ROSAH综合征的基因诊断。本病例通过多模态成像进一步详细阐述了文献中最近描述的两个显著特征——视盘周围和沿血管弓的视网膜前新生血管形成，以及视盘周围孤立的扩大的高自发荧光环。宽场OCTA的应用补充了FA的发现，证明视网膜毛细血管未闭塞。黄斑水肿对抗血管内皮生长因子（抗VEGF）注射有反应，但仅在复发前持续6周。
本报告为ROSAH表型提供了新的见解。抗VEGF可被视为ROSAH相关黄斑水肿的短期治疗方法。
