ArticleNeuro-ophthalmology (Aeolus Press)2026
Ophthalmic, Systemic and Genetic Features in Wolfram Syndrome.
Article in Neuro-ophthalmology (Aeolus Press), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
To evaluate quantitative microvascular ocular features using optical coherence tomography angiography (OCTA) in patients with Wolfram syndrome (WFS) and compared it with healthy controls. This cross-sectional study included patients with WFS and healthy controls. Diagnosis of WFS was based on clinical presentation and identification of biallelic pathogenic variants in the WFS1 gene. Ophthalmic and systemic examinations were performed. Spectral Domain OCTA scans of the optic nerve head (ONH), peripapillary region, and macular area were analyzed in patients able to undergo the exam and compared to controls. Fifty-seven eyes were included: 22 eyes from 11 WFS patients and 35 eyes from 18 healthy controls, from six families with WFS. Optic atrophy (100%) and diabetes mellitus (90.9%) were the most common systemic findings, followed by neurologic, urologic, and psychiatric disorders (each 63.6%), neurosensorial deafness (54.5%), and diabetes insipidus (9.1%). Best-corrected visual acuity ranged from light perception to 0.1 logMAR, with a mean of 0.97 ± 0.69 logMAR. OCTA analysis revealed significantly lower whole-image vessel density (VD), inside-disc VD, and peripapillary VD in WFS patients compared to controls (
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