Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family.

@article{Ghelue2000AutosomalDC,
  title={Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family.},
  author={Marijke Van Ghelue and Heidi Eriksen and Vesna Ponjavic and Toril Fagerheim and Sten O. L. Andreasson and Kristina Forsman-Semb and Ola Sandgren and G{\"o}sta Holmgren and Lisbeth Tranebjaerg},
  journal={Ophthalmic genetics},
  year={2000},
  volume={21 4},
  pages={197-209}
}
We present the clinical and molecular genetic features of a large multi-generation Norwegian family with dominant cone-rod dystrophy. Ophthalmological evaluation including electroretinography showed cone dysfunction in younger patients, with rod dysfunction becoming apparent at more advanced stages of the disease. In one branch of the family, cone degeneration remained the only manifestation despite advancing age. Linkage analysis mapped the disease gene in this family to 17p12-p13, a… CONTINUE READING
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