Central corneal mosaic opacities in Schnyder's crystalline dystrophy.

PURPOSE: To report an unusual presentation of Schnyder's corneal crystalline dystrophy (SCCD), sharing the feature of central corneal mosaic opacities.

DESIGN: Observational case report.

METHODS: A 51-year-old man and his family members were examined. Investigations included slit-lamp biomicroscopy, radiography of knee joint, plasma lipid level, and genotyping of the SCCD candidate region in chromosome 1p34.1-1p36.

RESULTS: A symmetric, central, disciform, full-thickness opacity was seen in both corneas of the patient. The opacities appeared in a mosaic pattern, instead of collections of crystals or a diffuse haze as typically detected in SCCD. Small clumps of crystalline deposits and arcus lipoides were also observed. Systemically, hyperlipidemia and bilateral genu valgus were identified. He had 2 daughters, and both of them had bilateral corneal crystalline deposits and genu valgus. No other family members had findings suggesting SCCD. The genetic study demonstrated that all of the affected individuals shared a common haplotype within the region of previously reported SCCD locus. However, 1 unaffected sibling of the proband also had the same haplotype.

CONCLUSIONS: Central corneal mosaic opacities may be another variant of SCCD.