Multimodal Imaging Features of Schnyder Corneal Dystrophy

Area of Science:

• Ophthalmology
• Corneal Imaging
• Histopathology

Background:

• Schnyder corneal dystrophy (SCD) is a rare genetic disorder affecting the cornea.
• Accurate diagnosis is crucial for appropriate management and treatment.
• Traditional diagnostic methods may have limitations in detecting early or subtle changes.

Purpose of the Study:

• To detail the multimodal imaging findings in Schnyder corneal dystrophy.
• To correlate in vivo imaging with ex vivo and histological findings.
• To assess the diagnostic utility of advanced imaging techniques for SCD.

Main Methods:

• Prospective observational study involving seven patients with confirmed SCD.
• In vivo multimodal imaging included spectral domain-optical coherence tomography (SD-OCT) and in vivo confocal microscopy (IVCM).
• Ex vivo full-field optical coherence tomography (FF-OCT) and light microscopy of corneal buttons were analyzed.

Main Results:

• SD-OCT and IVCM showed diffuse hyperreflectivity and hyperreflective deposits in the corneal epithelium and stroma.
• Characteristic findings included stromal opacities, arcus lipoides, and epithelial changes.
• Histology confirmed epithelial vacuolization and stromal vacuoles, with rare keratocyte nuclei.

Conclusions:

• High-resolution multimodal imaging effectively visualizes the characteristic features of SCD.
• These imaging modalities provide diagnostic confirmation of SCD, involving both epithelium and stroma.
• Diagnosis is possible even in cases where corneal crystals are not apparent on slit-lamp examination.