Congenital stationary night blindness and a "Schubert-Bornschein" type electrophysiology in a family with dominant inheritance

Abstract

Results from investigation of this family are consistent with an impairment of rod photoreceptor signalling. The ERG findings suggest an abnormality occurring after phototransduction with rod and S-cone pathway involvement. These findings differ from those rare families reported previously with dominant CSNB.