以葡萄膜炎表型首診的ROSAH綜合征1例_Chinese Journal of Ocular Fundus Diseases

Authors：

雷婷 ¹ , 張潔 ¹ , 何文斌 ² , 馬愛瓊 ¹ ,  周亮 ¹

1. ;
2. ;

Corresponding?author：

周亮, Email: Zhouliang12@csu.edu.cn

Keywords：

ROSAH綜合征; ALPK1基因; 葡萄膜炎; 病例報告

DOI：

10.3760/cma.j.cn511434-20251216-00579

Video：

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Citation： 雷婷, 張潔, 何文斌, 馬愛瓊, 周亮. 以葡萄膜炎表型首診的ROSAH綜合征1例. Chinese Journal of Ocular Fundus Diseases, 2026, 42(7): 597-600. doi: 10.3760/cma.j.cn511434-20251216-00579 Copy

1.	Kozycki CT, Kodati S, Huryn L, et al. Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome[J]. Ann Rheum Dis, 2022, 81(10): 1453-1464. DOI: 10.1136/annrheumdis-2022-222629.
2.	Williams LB, Javed A, Sabri A, et al. ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder[J]. Genet Med, 2019, 21(9): 2103-2115. DOI: 10.1038/s41436-019-0476-3.
3.	Mourozeau L, Pichon V, Bouzidi A, et al. Two cases of ROSAH-like syndrome restricted to the ophthalmologic presentation[J]. Ocul Immunol Inflamm, 2025, 33(5): 849-853. DOI: 10.1080/09273948.2025.2453873.
4.	Snelling T, Garnotel LO, Jeru, et al. Discovery and functional analysis of a novel ALPK1 variant in ROSAH syndrome[J/OL]. Open Biol, 2024, 14(12): 240260[2024-12-04]. https://pubmed.ncbi.nlm.nih.gov/39626775/. DOI: 10.1098/rsob.240260.
5.	Sun Z, Wei X, Han X, et al. Ocular manifestations of ROSAH syndrome caused by different mutations of the ALPK1 gene[J]. Am J Ophthalmol, 2026, 281: 456-464. DOI: 10.1016/j.ajo.2025.09.049.
6.	Hecker J, Letizia M, Loescher BS, et al. Early onset of TNFα-driven arthritis, auto-inflammation, and progressive loss of vision in a patient with ALPK1 mutation[J]. J Clin Immunol, 2022, 42(4): 880-884. DOI: 10.1007/s10875-022-01214-8.
7.	Shunyakova J, Reynolds M, Taylor A, et al. Case Report: ROSAH syndrome presents diagnostic and therapeutic challenges[J/OL]. Front Ophthalmol, 2025, 5: 1535805[2025-03-25]. https://pubmed.ncbi.nlm.nih.gov/40201710/. DOI: 10.3389/fopht.2025.1535805.
8.	Huryn LA, Kozycki CT, Serpen JY, et al. Ophthalmic manifestations of ROSAH (retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache) syndrome, an inherited NFκB-mediated autoinflammatory disease with retinal dystrophy[J]. Ophthalmology, 2023, 130(4): 423-432. DOI: 10.1016/j.ophtha.2022.10.026.
9.	Hong R, Lo TCS, Campbell TG, et al. ROSAH syndrome presenting with recurrent vitreous hemorrhage: a multimodal imaging study[J]. Ophthalmic Genetics, 2025, 46(3): 313-317. DOI: 10.1080/13816810.2025.2474024.
10.	Jamilloux Y, Mathis T, Grunewald O, et al. ALPK1 gene mutations drive autoinflammation with ectodermal dysplasia and progressive vision loss[J]. J Clin Immunol, 2021, 41(7): 1671-1673. DOI: 10.1007/s10875-021-01087-3.
11.	Stephenson KAJ, Zhu J, Dockery A, et al. Clinical and genetic re-evaluation of inherited retinal degeneration pedigrees following initial negative findings on panel-based next generation sequencing[J/OL]. Int J Mol Sci, 2022, 23(2): 995[2022-01-17]. https://pubmed.ncbi.nlm.nih.gov/35055178/. DOI: 10.3390/ijms23020995.
12.	Teixeira-Martins R, Faria-Pereira A, Figueiredo AS, et al. Tocilizumab as a treatment tool for ROSAH syndrome: a case report[J/OL]. J Ophthalmic Inflamm Infect, 2025, 15(1): 87[2025-11-21]. https://pubmed.ncbi.nlm.nih.gov/41269507/. DOI: 10.1186/s12348-025-00550-1.

1. Kozycki CT, Kodati S, Huryn L, et al. Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome[J]. Ann Rheum Dis, 2022, 81(10): 1453-1464. DOI: 10.1136/annrheumdis-2022-222629.
2. Williams LB, Javed A, Sabri A, et al. ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder[J]. Genet Med, 2019, 21(9): 2103-2115. DOI: 10.1038/s41436-019-0476-3.
3. Mourozeau L, Pichon V, Bouzidi A, et al. Two cases of ROSAH-like syndrome restricted to the ophthalmologic presentation[J]. Ocul Immunol Inflamm, 2025, 33(5): 849-853. DOI: 10.1080/09273948.2025.2453873.
4. Snelling T, Garnotel LO, Jeru, et al. Discovery and functional analysis of a novel ALPK1 variant in ROSAH syndrome[J/OL]. Open Biol, 2024, 14(12): 240260[2024-12-04]. https://pubmed.ncbi.nlm.nih.gov/39626775/. DOI: 10.1098/rsob.240260.
5. Sun Z, Wei X, Han X, et al. Ocular manifestations of ROSAH syndrome caused by different mutations of the ALPK1 gene[J]. Am J Ophthalmol, 2026, 281: 456-464. DOI: 10.1016/j.ajo.2025.09.049.
6. Hecker J, Letizia M, Loescher BS, et al. Early onset of TNFα-driven arthritis, auto-inflammation, and progressive loss of vision in a patient with ALPK1 mutation[J]. J Clin Immunol, 2022, 42(4): 880-884. DOI: 10.1007/s10875-022-01214-8.
7. Shunyakova J, Reynolds M, Taylor A, et al. Case Report: ROSAH syndrome presents diagnostic and therapeutic challenges[J/OL]. Front Ophthalmol, 2025, 5: 1535805[2025-03-25]. https://pubmed.ncbi.nlm.nih.gov/40201710/. DOI: 10.3389/fopht.2025.1535805.
8. Huryn LA, Kozycki CT, Serpen JY, et al. Ophthalmic manifestations of ROSAH (retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache) syndrome, an inherited NFκB-mediated autoinflammatory disease with retinal dystrophy[J]. Ophthalmology, 2023, 130(4): 423-432. DOI: 10.1016/j.ophtha.2022.10.026.
9. Hong R, Lo TCS, Campbell TG, et al. ROSAH syndrome presenting with recurrent vitreous hemorrhage: a multimodal imaging study[J]. Ophthalmic Genetics, 2025, 46(3): 313-317. DOI: 10.1080/13816810.2025.2474024.
10. Jamilloux Y, Mathis T, Grunewald O, et al. ALPK1 gene mutations drive autoinflammation with ectodermal dysplasia and progressive vision loss[J]. J Clin Immunol, 2021, 41(7): 1671-1673. DOI: 10.1007/s10875-021-01087-3.
11. Stephenson KAJ, Zhu J, Dockery A, et al. Clinical and genetic re-evaluation of inherited retinal degeneration pedigrees following initial negative findings on panel-based next generation sequencing[J/OL]. Int J Mol Sci, 2022, 23(2): 995[2022-01-17]. https://pubmed.ncbi.nlm.nih.gov/35055178/. DOI: 10.3390/ijms23020995.
12. Teixeira-Martins R, Faria-Pereira A, Figueiredo AS, et al. Tocilizumab as a treatment tool for ROSAH syndrome: a case report[J/OL]. J Ophthalmic Inflamm Infect, 2025, 15(1): 87[2025-11-21]. https://pubmed.ncbi.nlm.nih.gov/41269507/. DOI: 10.1186/s12348-025-00550-1.

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以葡萄膜炎表型首診的ROSAH綜合征1例

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