Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.

  title={Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.},
  author={Thomas Rosenberg and Britta Baumann and Susanne Kohl and Eberhart Zrenner and Arne Lund Jorgensen and Bernd Wissinger},
  journal={Investigative ophthalmology & visual science},
  volume={45 12},
PURPOSE The present study was designed to elucidate the molecular genetic basis of a congenital stationary cone dysfunction characterized by congenital nystagmus, moderate visual impairment, and markedly disparate color vision deficiencies between two affected cousins. METHODS Ophthalmic examinations with emphasis on color vision and electrophysiology. Molecular genetic analysis of the X-linked cone opsin genes, mutation screening of the CNGA3, CNGB3, and GNAT2 genes, and heterologous… CONTINUE READING


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