Schnyder corneal crystalline dystrophy: description of a new family with evidence of abnormal lipid storage in skin fibroblasts.

@article{Battisti1998SchnyderCC,
  title={Schnyder corneal crystalline dystrophy: description of a new family with evidence of abnormal lipid storage in skin fibroblasts.},
  author={Carla Battisti and Maria Teresa Dotti and Alessandro Malandrini and Francesco Pezzella and Alberto Bardelli and Antonio Federico},
  journal={American journal of medical genetics},
  year={1998},
  volume={75 1},
  pages={35-9}
}
Schnyder corneal crystalline dystrophy (SCCD) comprises corneal opacities often associated with precocious arcus senilis and genua valga. The metabolic defect seems to be related to abnormal lipid storage in the central part of the cornea, especially the anterior stroma, consisting mainly of nonesterified cholesterol. Plasma lipid levels are not always increased suggesting that the disease may be due to abnormal lipid metabolism limited to the cornea. We observed a family with typical SCCD, in… CONTINUE READING

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