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Several mutations have been implicated as a cause of Oguchi disease.
Defects in GRK1 result in Oguchi disease 2.
Oguchi disease is characterized by a golden-brown fundus with a yellow-gray 'metallic' sheen in the light-adapted state.
Oguchi disease present with nonprogressive night blindness since young childhood or birth with normal day vision, but they frequently claim improvement of light sensitivities when they remain for some time in a darkened environment.
Oguchi disease, also called congenital stationary night blindness, Oguchi type 1 or Oguchi disease 1, is an autosomal recessive form of congenital stationary night blindness associated with fundus discoloration and abnormally slow dark adaptation.