Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients.

@article{MichelsRautenstrauss2002NovelMI,
  title={Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients.},
  author={Karin G. Michels-Rautenstrauss and Christian Y. Mardin and Nina S Wakili and Anselm G. M. Juenemann and Luis Villalobos and Carlos Mejia and Gabriela Chavarria Soley and Jorge Azofeifa and Sevinc Ozbey and Gottfried Otto Helmut Naumann and Andr{\'e} Reis and Bernd I Rautenstrauss},
  journal={Human mutation},
  year={2002},
  volume={20 6},
  pages={479-80}
}
Mutations at the myocilin (MYOC) gene within the GLC1A locus have been revealed in 2-4% of patients suffering primary open angle glaucoma (POAG) worldwide. In our ongoing glaucoma study six hundred eighty two persons have been screened for MYOC mutations. The first group consisted of 453 patients from a long-term clinical study diagnosed either with juvenile OAG (JOAG), POAG, ocular hypertension (OHT) or normal tension glaucoma (NTG) plus 22 cases of secondary glaucoma. This group, and… CONTINUE READING