Purpose: To report an unusual presentation of Schnyder’s corneal crystalline dystrophy (SCCD), sharing the feature of central corneal mosaic opacities. Desig n: Observational case report. Methods: A 51-year-old man a...Purpose: To report an unusual presentation of Schnyder’s corneal crystalline dystrophy (SCCD), sharing the feature of central corneal mosaic opacities. Desig n: Observational case report. Methods: A 51-year-old man and his family member s were examined. Investigations included slit-lamp biomicroscopy, radiography o f knee joint, plasma lipid level, and genotyping of the SCCD candidate region in chromosome 1p34.1-1p36. Results: A symmetric, central, disciform, fullthicknes s opacity was seen in both corneas of the patient. The opacities appeared in a m osaic 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 ident ified. He had 2 daughters, and both of them had bilateral corneal crystalline de posits and genu valgus. No other family members had findings suggesting SCCD. Th e genetic study demonstrated that all of the affected individuals shared a commo n haplotype within the region of previously reported SCCD locus. However, 1 unaf fected sibling of the proband also had the same haplotype. Conclusions: Central corneal mosaic opacities may be another variant of SCCD.展开更多
文摘Purpose: To report an unusual presentation of Schnyder’s corneal crystalline dystrophy (SCCD), sharing the feature of central corneal mosaic opacities. Desig n: Observational case report. Methods: A 51-year-old man and his family member s were examined. Investigations included slit-lamp biomicroscopy, radiography o f knee joint, plasma lipid level, and genotyping of the SCCD candidate region in chromosome 1p34.1-1p36. Results: A symmetric, central, disciform, fullthicknes s opacity was seen in both corneas of the patient. The opacities appeared in a m osaic 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 ident ified. He had 2 daughters, and both of them had bilateral corneal crystalline de posits and genu valgus. No other family members had findings suggesting SCCD. Th e genetic study demonstrated that all of the affected individuals shared a commo n haplotype within the region of previously reported SCCD locus. However, 1 unaf fected sibling of the proband also had the same haplotype. Conclusions: Central corneal mosaic opacities may be another variant of SCCD.
