In vivo confocal microscopy of a family with Schnyder crystalline corneal dystrophy.

ABSTRACT

OBJECTIVE: To analyze corneal morphology in Schnyder crystalline corneal dystrophy (SCCD) in vivo. DESIGN: Observational case series. PARTICIPANTS: Five eyes of four patients of various belonging to the same family were examined. METHODS: The eyes were examined using in vivo confocal microscopy (CM). MAIN OUTCOME MEASURES: The corneal morphology including keratocytes and stromal extracellular matrix, as well as basal epithelial/subepithelial nerves is, described. RESULTS: The right eye of a 48-year-old male patient had been treated with anterior keratectomy and the left eye with phototherapeutic keratectomy (PTK). The right eye presented with increased stromal reflectivity owing to accumulation of extracellular matrix and large subepithelial crystalline deposits. Far fewer crystals could be observed in the left eye. The haze, however, was increased, either because of the dystrophy or the excimer laser treatment. The anterior keratocytes appeared irregular, and the subepithelial nerves were undetectable in both eyes. His 78-year-old mother showed more advanced changes with dense crystals, highly fibrotic stroma, and severely damaged corneal innervation. The partly irregular anterior keratocytes of the 9- and 7-year-old children contained intracellular deposits, although the corneas were clinically clear with only subtle subepithelial crystalline formation. Accumulation of similar reflective material was also observed in association with the prominent subepithelial nerves. CONCLUSIONS: In the early stages of SCCD, highly reflective deposits accumulate intracellularly and around anterior keratocytes and along subepithelial nerves. With time, the normal corneal architecture becomes disturbed by large extracellular crystalline deposits and accumulation of highly reflective extracellular matrix resulting in central opacity and disruption of the subepithelial nerve plexus. Furthermore, neural regeneration after keratectomy appears delayed in SCCD.