Schnyder Corneal Dystrophy in an Adolescent: A Case Report With Multimodal Imaging

Schnyder corneal dystrophy (SCD) is a rare, autosomal dominant, bilateral corneal dystrophy characterized by progressive deposition of cholesterol and phospholipids within the central corneal stroma. The condition is associated with pathogenic variants in the <i>UBIAD1</i> gene, responsible for lipid metabolism. We report the case of a 17-year-old female presenting with progressive bilateral visual deterioration. Comprehensive ophthalmological examination, including slit-lamp biomicroscopy, in vivo confocal microscopy, and anterior segment optical coherence tomography (AS-OCT), was performed. The examination revealed bilateral stromal haze and central corneal crystalline deposits characteristic of SCD. The diagnosis required careful differentiation from other conditions presenting with corneal opacities or crystalline deposits, including other corneal dystrophies and systemic disorders affecting lipid metabolism. Early recognition through characteristic slit-lamp findings and multimodal imaging is decisive for appropriate management and monitoring of disease progression. Treatment options range from optical correction in early stages to phototherapeutic keratectomy, with corneal transplantation reserved for advanced cases. This case highlights the diagnostic value of combining clinical examination with in vivo confocal microscopy and AS-OCT in establishing the diagnosis of SCD, even when genetic testing is not performed.