Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy.

@article{Pasutto2018NovelTM,
  title={Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy.},
  author={Francesca Pasutto and Arif B. Ekici and Andr{\'e} Reis and Jan Kremers and C. R. Huchzermeyer},
  journal={Ophthalmic genetics},
  year={2018},
  volume={39 6},
  pages={
          741-748
        }
}
BACKGROUND Low vision in children can be accompanied by pallor of the optic disc with little or no characteristic morphologic changes of the retina. A variety of diseases can be the underlying cause, including hereditary optic atrophy, Leber's congenital amaurosis (LCA), achromatopsia, and calcium channel, voltage-dependent, L-type, alpha-1F subunit gene (CACNA1F)-associated retinopathy (most widely known as incomplete congenital stationary night blindness: iCSNB). Differentiation at early age… CONTINUE READING