Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy.

  title={Two distinct kerato-epithelin mutations in Reis-B{\"u}cklers corneal dystrophy.},
  author={Mariko Okada and Shuji Yamamoto and Motokazu Tsujikawa and Hitoshi Watanabe and Yoshitsugu Inoue and Naoyuki Maeda and Yoshikazu Shimomura and Kohji Nishida and Andrew J Quantock and Shigeru Kinoshita and Yasuo Tano},
  journal={American journal of ophthalmology},
  volume={126 4},
PURPOSE Two patients were diagnosed with Reis-Bücklers corneal dystrophy (RBCD), although the pattern and severity of corneal opacification differed. To see whether there was a genetic basis for these phenotypic variations, we analyzed beta ig-h3, the gene that codes for kerato-epithelin and that contains a mutation (Arg555Gln) that causes RBCD. METHODS A 30-year-old man with honeycomb-shaped subepithelial opacities in his central cornea and a 25-year-old man with progressive subepithelial… CONTINUE READING


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