Three patients with WDR45 X-linked optic atrophy had elevated tear iron levels.
Elevated iron levels in tears of patients diagnosed with WDR45 X-linked optic atrophy.
Marina Michelson … Nitza Goldenberg-Cohen
Orphanet journal of rare diseases · Apr 2026
Background
Pathogenic variants in WDR45 are associated with iron deposits in the basal ganglia.
Purpose
We aimed to determine iron levels in tears of patients with WDR45 X-linked optic atrophy compared to healthy controls.
Methods
The study group included two brothers aged 26 and 32 years and a 3-year-old girl from another family diagnosed with optic atrophy, all of whom harbored a novel pathogenic variant in WDR45.
More results
All three patients with WDR45 X-linked optic atrophy exhibited elevated iron levels in their tears compared to healthy controls.
No differences from the control group were detected for other trace elements.
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Conclusion · 1 of 3
This is the first study to show higher-than-normal iron levels in the tears of patients with X-linked optic atrophy due to a variant in WDR45.
Conclusion · 2 of 3
The findings broaden our understanding of the role of the WDR45 gene in disorders related to abnormal iron pathophysiology. PIXE analysis is a highly sensitive technique for measuring trace elements in tears.
Conclusion · 3 of 3
Further clinical studies are needed to investigate potentially novel genotype-phenotype correlations. The application of these findings in clinical practice may benefit patient care.
