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

BACKGROUND/AIMS To present the clinical, psychophysical, and electrophysiological characteristics of a family with dominantly inherited congenital stationary night blindness (CSNB). METHODS Five affected family members from three generations were ascertained. Four affected individuals underwent ophthalmic examination and electrodiagnostic investigations. Three affected individuals also underwent scanning laser ophthalmoscopy and psychophysical testing. RESULTS Affected individuals reported night blindness from an early age. Visual acuities were normal. Fundal appearances were normal apart from one older patient showing areas of peripheral chorioretinal atrophy. Autofluorescence images showed no gross abnormality. International Society for Clinical Electrophysiology of Vision (ISCEV) standard electroretinography (ERG) showed undetectable rod specific responses and electronegative maximal responses, but normal ISCEV cone responses. Additional S-cone specific ERG recordings were of reduced amplitude in all patients studied. There was no apparent rod component to the dark adaptation curve. Central 30 degrees thresholds were normal under photopic conditions but showed increased thresholds under scotopic conditions for both red and blue stimuli. CONCLUSION 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.