Retinal Features and Preserved Vision in ENPP1 Deficiency: Long-Term Insights from Multimodal Imaging and Electrophysiology.
Peter Heiduschka, Yvonne Nitschke, Christoph Clemens et al.
✦ AI-curated · Sources linked
Case in brief
A male patient with ENPP1 deficiency underwent a comprehensive ophthalmic assessment over ten years. Despite systemic ectopic calcification, his visual acuity showed only slight decline, and multimodal imaging revealed numerous retinal speckles without significant structural changes. Electrophysiological tests indicated reduced rod sensitivity and altered ERG metrics, suggesting mild subclinical retinal involvement while overall retinal structure and function remained largely preserved.
What made this case unusual
The case highlights the unique stability of retinal function in ENPP1 deficiency compared to other conditions like ABCC6-related PXE, suggesting a distinct clinical course.
Diagnostic / clinical pearl
Clinicians should consider the potential for preserved retinal function in patients with ENPP1 deficiency, despite systemic calcification and mild retinal changes.
Why it matters
Understanding the retinal implications of ENPP1 deficiency can aid in monitoring and managing patients, emphasizing the role of electrophysiological assessments as noninvasive biomarkers.