Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF kB-Mediated Autoinflammatory Disease with Retinal Dystrophy

Ophthalmology Volume 130, Number 4, April 2023

 

中文摘要

本文旨在探討罕見的ROSAH（視網膜萎縮，視神經水腫，脾臟肥大，無汗和頭痛）症候群患者的眼部表徵，該症候群是一種罕見的常染色體显性疾病，以視網膜萎縮，視神經水腫，脾臟肥大，無汗和頭痛為特徵。本研究包括11名患有ROSAH症候群且ALPK1基因突變的患者。研究結果表明，ROSAH症候群患者的視覺功能變化有三個主要因素：包括視神經受損，包括眼內發炎含囊狀黃斑水腫(cystoid macular edema)以及視網膜退化。在這些患者中觀察到可變的眼內發炎症跡象或後遺症，包括角膜沉澱，帶状角膜病變，前房細胞，囊狀黃斑水腫和FAG的视網膜血管炎。此外，十名患者呈現視神經盤突起，OCT可看到peripapillary厚度增加。結果顯示，ROSAH症候群患者的視覺功能變化與視神經，眼內炎症，包括囊狀黃斑水腫，以及視網膜退化有關。

 

English Abstract

This article aims to investigate the ocular manifestations of the rare ROSAH (Retinal dystrophy, Optic disc Swelling, Splenomegaly, Anhidrosis, and Headache) syndrome, a rare autosomal dominant disorder characterized by retinal dystrophy, optic disc swelling, splenomegaly, anhidrosis, and headache. This study included 11 patients with ROSAH syndrome and mutations in the ALPK1 gene. The results showed that there were three main factors contributing to the visual functional changes in ROSAH syndrome patients, including optic nerve damage, intraocular inflammation involving cystoid macular edema, and retinal degeneration. Variable signs or sequelae of intraocular inflammation were observed in these patients, including corneal deposits, band keratopathy, anterior chamber cells, cystoid macular edema, and retinal vasculitis on fluorescein angiography. Additionally, ten patients showed optic disc elevation and increased peripapillary thickness on OCT. These results suggest that the visual functional changes in ROSAH syndrome patients are associated with optic nerve, intraocular inflammation involving cystoid macular edema, and retinal degeneration.