[Retinal degeneration with blue cone hypersensitivity].

The clinical and electrophysiological findings are presented for five patients who had enhanced blue cone sensitivity. This new syndrome is characterized by night blindness, yellow, partly pigmented flecks at the posterior pole and variable visual loss. Maculopathy and peripheral retinoschisis may occur. The electroretinogram shows similar responses to dark and light-adapted conditions and long b-wave implicit times. This was the first time that it could successfully be demonstrated that the disease is really inherited and is probably of autosomal recessive origin. The main diagnostic test is an ERG recording with blue and red stimuli in the light-adapted state. These patients show enhanced sensitivity for blue instead of red when compared to normals and other retinal degenerations.