期刊
OPHTHALMOLOGY
卷 130, 期 4, 页码 423-432出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.ophtha.2022.10.026
关键词
Cone-rod dystrophy; Optic disc elevation; Syndromic retinal dystrophy; Uveitis; Vasculitis
The purpose of this study was to characterize the ocular phenotype of patients with ROSAH syndrome and their response to therapy. Patients with molecularly confirmed ROSAH syndrome were evaluated and it was found that optic nerve involvement, intraocular inflammation, and retinal degeneration were the main factors contributing to changes in visual function of patients with ROSAH syndrome.
Purpose: We aimed to characterize the ocular phenotype of patients with ROSAH (retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache) syndrome and their response to therapy. Design: Single-center observational case study. Participants: Eleven patients with a diagnosis of ROSAH syndrome and mutation in ALPK1 were included. Methods: Patients with molecularly confirmed ROSAH syndrome underwent ophthalmic evaluation, including visual acuity testing, slit-lamp and dilated examinations, color fundus and autofluorescence imaging, fluorescein angiography, OCT, and electrophysiologic testing. Main Outcome Measures: Visual acuity, electrophysiology, fluorescein angiography, and OCT findings. Results: Eleven individuals (6 female and 5 male patients) from 7 families ranging in age from 7.3 to 60.2 years at the time of the initial evaluation were included in this study. Seven patients were followed up for a mean of 2.6 years (range, 0.33-5.0 years). Best-corrected visual acuity at baseline ranged from 20/16 to no light perception. Variable signs or sequelae of intraocular inflammation were observed in 9 patients, including keratic precipitates, band keratopathy, trace to 2 thorn anterior chamber cells, cystoid macular edema, and retinal vasculitis on fluorescein angiography. Ten patients were observed to show optic disc elevation and demonstrated peri-papillary thickening on OCT. Seven patients showed retinal degeneration consistent with a cone-rod dystrophy, with atrophy tending to involve the posterior pole and extending peripherally. One patient with normal electro-retinography findings and visual evoked potential was found to have decreased Arden ratio on electro-oculography. Conclusions: Leveraging insights from the largest single-center ROSAH cohort described to date, this study identified 3 main factors as contributing to changes in visual function of patients with ROSAH syndrome: optic nerve involvement; intraocular inflammation, including cystoid macular edema; and retinal degeneration. More work is needed to determine how to arrest the progressive vision loss associated with ROSAH syndrome.
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