A patient with congenital stationary night blindness (CSNB) (Schubert-Bornschein type) transmitted as an autosomal recessive trait was studied with several tests of electrical function as well as a variety of psychophysical procedures. Comparison of the patient's present findings with those obtained 23 years earlier showed that while rod thresholds have remained the same, cone sensitivity has decreased. Subjective flicker thresholds obtained following a bleach were unchanged during the course of dark adaptation. The absence of rod-cone interaction, together with an absent scotopic b-wave, implies that the defect is in the mid-retinal layers. Further, the absence of oscillatory potentials in the photopic electroretinogram (ERG) suggests that the interplexiform cell may be implicated in some manner. The focal ERG of the CSNB patient showed normal amplitude and normal phase delays, supporting the idea that the focal ERG samples primarily cone photoreceptor activity.
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