Chronic changes in acute zonal occult outer retinopathy mimicking non-progressive retinitis pigmentosa: clinical and laboratory characteristics
Journal
Graefe's Archive for Clinical and Experimental Ophthalmology
ISSN
0721-832X
1435-702X
Date Issued
2026-03-24
Author(s)
Abstract
Purpose: To report cases of acute zonal occult outer retinopathy (AZOOR) with chronic retinal pigmentary changes mimicking retinitis pigmentosa (RP) and to identify metabolite biomarkers differentiating AZOOR from RP. Methods: Fifteen eyes from eight patients were diagnosed AZOOR by characteristic trizonal appearance of retina. The data of comprehensive ophthalmologic examination, multimodal imaging, visual field and electrophysiology testing was collected. Next-generation sequencing (NGS) genetic test was performed to screen pathogenic variants. Untargeted metabolomic study with high-resolution mass spectrometry was performed on the plasma samples of seven AZOOR, eight RP and eight controls. Results: The mean age of study subjects was 54.6 ± 12.3 years. Five of the eight patients presented with asymmetric severity of retinal lesion. Segmental peripapillary area involvement was observed in six patients while bilateral extensive, circumferential retinal pigment epithelium degeneration over mid-periphery was found in two patients. No substantial progression was noted during follow-up (11.4 ± 7.7 years). The NGS genetic test revealed no pathogenic variants of RP in 6 patients and one autosomal-recessive variant in 2 patients. Metabolomic analysis showed substantial overlap in global profiles among AZOOR, RP, and controls, while a small subset of putative metabolites (including retinyl acetate, valinol, phosphatidylserine) differed between AZOOR and RP and may warrant further investigation in future. Conclusion: Clinical evaluation, including disease course, family history, multimodal fundus imaging, electrophysiological tests, as well as laboratory diagnosis with genetic testing and metabolomic analysis help differentiate chronic AZOOR from RP. Metabolomics offers clues to metabolic changes and may guide future therapeutic target exploration.
Subjects
Acute zonal occult outer retinopathy (AZOOR)
Electroretinogram (ERG)
Metabolomics
Next-generation sequencing (NGS)
Retinitis pigmentosa (RP)
Trizonal appearance
Publisher
Springer Science and Business Media LLC
Type
journal article