ABSTRACT
Hereditary retinal conditions may be stationary or relatively mildly progressive rather than dystrophies with progressive degeneration. Among the stationary disorders, the full-field ERG is an important diagnostic test particularly for congenital stationary night blindness and rod monochromatism. This chapter focuses on the electrophysiologic findings of this group of relatively non-progressive congenital hereditary retinal conditions with the following outline:
Stationary night blindness disorders:
Congenital stationary night blindness (CSNB) Fundus albipunctatus Oguchi disease Fleck retina of Kandori
Stationary cone dysfunction disorders:
Hereditary congenital color vision deficiencies
Rod monochromatism (autosomal recessive achromatopsia)
Blue cone monochromatism (x-linked incomplete achromatopsia)
STATIONARY NIGHT BLINDNESS DISORDERS
Congenital Stationary Night Blindness
Congenital stationary night blindness (CSNB) refers to a group of genotypically diverse and phenotypically diverse disorders characterized by non-progressive dysfunction of the rod system. The prevalence of CSNB is approximately 1 in 10,000 (1). Night vision impairment is the predominant symptom of CSNB but because this is congenital rather than acquired, some affected persons may not recognize the significance of the symptom and may not complain of impaired night vision if the disease is mild and visual acuity is preserved.
