A Mini-review: Animal Models of GUCY2D Leber Congenital Amaurosis (LCA1).

@article{Boye2016AMA,
  title={A Mini-review: Animal Models of GUCY2D Leber Congenital Amaurosis (LCA1).},
  author={Shannon E. Boye},
  journal={Advances in experimental medicine and biology},
  year={2016},
  volume={854},
  pages={
          253-8
        }
}
GUCY2D encodes retinal guanylate cylase-1 (retGC1), a protein that plays a pivotal role in the recovery phase of phototransduction. Mutations in GUCY2D are associated with a leading cause of recessive Leber congenital amaurosis (LCA1). Patients present within the first year of life with aberrant or unrecordable electroretinogram (ERG), nystagmus and a relatively normal fundus. Aside from abnormalities in the outer segments of foveal cones and, in some patients, foveal cone loss, LCA1 patients… CONTINUE READING
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