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Schnyder Corneal Dystrophy in an Adolescent: A Case Report With Multimodal Imaging
Jan Bombuy Gimenez1, Justyna Izdebska1, Jacek P Szaflik1
1Department of Ophthalmology, Medical University of Warsaw, Warsaw, POL.
Cureus
|September 12, 2025
Summary
Schnyder corneal dystrophy (SCD) involves lipid deposits in the cornea, causing vision loss. Early diagnosis using imaging aids management and monitoring of this rare genetic condition.
Area of Science:
- Ophthalmology
- Genetics
- Metabolic Disorders
Background:
- Schnyder corneal dystrophy (SCD) is a rare autosomal dominant inherited disorder.
- It is characterized by progressive cholesterol and phospholipid deposition in the central corneal stroma.
- Pathogenic variants in the UBIAD1 gene are associated with SCD, affecting lipid metabolism.
Keywords:
anterior segment optical coherence tomography (as-oct)confocal microscopycorneal opacitycrystalline depositsschnyder corneal dystrophyubiad1 gene
