Ophthalmic, Systemic and Genetic Features in Wolfram Syndrome

Area of Science:

• Ophthalmology
• Genetics
• Neuroscience

Background:

• Wolfram syndrome (WFS) is a rare, progressive neurodegenerative disorder with severe systemic and ocular manifestations.
• Ocular complications in WFS often include optic atrophy and vision impairment, but the underlying microvascular changes are not fully understood.

Purpose of the Study:

• To quantitatively assess ocular microvascular features in patients with Wolfram syndrome using optical coherence tomography angiography (OCTA).
• To compare microvascular density in WFS patients with that of healthy controls.

Main Methods:

• A cross-sectional study involving 11 WFS patients and 18 healthy controls.
• Spectral Domain OCTA scans of the optic nerve head, peripapillary region, and macula were analyzed.
• Quantitative analysis of whole-image, inside-disc, and peripapillary vessel density (VD), and macular superficial capillary plexus (SCP) VD.

Main Results:

• WFS patients exhibited significantly lower whole-image VD, inside-disc VD, and peripapillary VD compared to controls (p < .001).
• Reduced parafoveal SCP VD was observed in WFS patients, particularly in the nasal, inferior, and superior sectors (p < .001).
• Optic atrophy and diabetes mellitus were the most prevalent systemic findings in WFS patients.

Conclusions:

• OCTA demonstrates significant microvascular impairment across all examined ocular regions in Wolfram syndrome.
• Reduced ocular vessel density in WFS patients suggests a potential contribution of microvascular dysfunction to neurodegeneration and retinal structural changes.
• OCTA is a valuable tool for evaluating microvascular alterations in WFS, aiding in understanding disease pathogenesis.