Mourozeau Laurie, Pichon Virginie, Bouzidi Aymane, Charif Majida, Tessarech Marine, Caignard Angélique, Amati-Bonneau Patrizia, Guichet Agnès, Lavigne Christian, Verny Christophe, Gohier Philippe, Lenaers Guy
Department of Ophthalmology, University Hospital of Angers, Angers, France.
Department of Neurology, University Hospital of Angers, Angers, France.
Ocul Immunol Inflamm. 2025 Jan 23:1-5. doi: 10.1080/09273948.2025.2453873.
To report the clinical presentation and follow-up, including the optical coherence tomography, angiography and electrophysiology of two individuals from the same family presenting with an isolated retinal dystrophy and optic nerve edema who were diagnosed with ROSAH-like syndrome.
Observational case report of a 55-year-old woman and her 36-year-old son with a genetic analysis of ROSAH, after a long-term follow-up.
Both the mother and her son displayed severe optic nerve infiltration and retinal pigment atrophy with intraocular inflammation, which were not improved by immunosuppressive treatment. Systemic investigations were not relevant of a syndromic presentation. Whole exome sequencing revealed the same missense pathogenic variant c.710C>T; p.(Thr237Met) responsible for ROSAH syndrome.
variant responsible for ROSAH syndrome may cause severe retinal dystrophy and an uveitis-like presentation resistant to conventional immunosuppressive drugs, without the systemic symptoms common to the ROSAH syndrome.
报告同一家庭中两名患有孤立性视网膜营养不良和视神经水肿并被诊断为类ROSAH综合征患者的临床表现及随访情况，包括光学相干断层扫描、血管造影和电生理检查结果。
对一名55岁女性及其36岁儿子进行长期随访后的观察性病例报告，并对ROSAH进行基因分析。
母亲和儿子均表现出严重的视神经浸润和伴有眼内炎症的视网膜色素萎缩，免疫抑制治疗未能改善这些症状。全身检查未发现综合征表现。全外显子测序显示相同的错义致病变异c.710C>T；p.(Thr237Met)，该变异导致ROSAH综合征。
导致ROSAH综合征的变异可能引起严重的视网膜营养不良和对传统免疫抑制药物耐药的葡萄膜炎样表现，且无ROSAH综合征常见的全身症状。
