In vivo laser confocal microscopy findings and mutational analysis for Schnyder's crystalline corneal dystrophy.

@article{Kobayashi2009InVL,
  title={In vivo laser confocal microscopy findings and mutational analysis for Schnyder's crystalline corneal dystrophy.},
  author={Akira Kobayashi and Keiko Fujiki and Akira Murakami and Kazuhisa Sugiyama},
  journal={Ophthalmology},
  year={2009},
  volume={116 6},
  pages={1029-37.e1}
}
OBJECTIVE To identify any mutation of the UbiA prenyltransferase domain-containing protein 1 (UBIAD1) gene in Japanese patients with Schnyder's crystalline corneal dystrophy (SCCD) and to investigate in vivo microstructural phenotype and genotype correlations using laser scanning confocal microscopy (Heidelberg Retina Tomograph 2 Rostock Cornea Module; Heidelberg Engineering GmbH, Dossenheim, Germany). DESIGN Small, comparative case series. PARTICIPANTS Three patients from 3 pedigrees (3… CONTINUE READING