Night blindness, congenital stationary, type1i
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Sign InDescription
Congenital stationary night blindness type 1I (CSNB1I) is characterized by night blindness from infancy or early childhood. Visual acuity is preserved, but some patients have color vision and/or visual field defects. Older patients may show retinitis pigmentosa-like retinal degeneration (Stunkel et al., 2018).
Mode of Inheritance
- Autosomal recessive inheritance
VARIANTS
4