Xiao et al. (2012) studied 17 affected and 8 unaffected members of a 4-generation Chinese family segregating autosomal dominant congenital nystagmus, with multiple instances of male-to-male transmission. All affected individuals had horizontal pendular nystagmus that was present since ... Xiao et al. (2012) studied 17 affected and 8 unaffected members of a 4-generation Chinese family segregating autosomal dominant congenital nystagmus, with multiple instances of male-to-male transmission. All affected individuals had horizontal pendular nystagmus that was present since infancy. Corneas were normal, as was funduscopic examination, except in 2 patients who had myopic changes. Two affected males had red-green color vision defects found on screening using Ishihara plates, but another affected individual had normal cone and rod responses on electroretinography. None of the affected individuals had photophobia, night blindness, hypo- or hyperpigmentation in the iris or retina, ataxia, or other noticeable systemic abnormalities. Li et al. (2012) studied 9 affected and 6 unaffected members of a 3-generation Chinese family (family 86001) segregating autosomal dominant congenital nystagmus. All patients had nystagmus since infancy. Clinical examination of all patients demonstrated horizontal pendular nystagmus, clear corneas, normal irides without pigmentary anomalies, transparent lenses, and normal fundi and foveal reflexes. All patients showed normal color vision on screening with Ishihara plates, and none had photophobia or night blindness.
In a 4-generation Chinese family segregating autosomal dominant congenital nystagmus mapping to chromosome 1q31-q32.2, Xiao et al. (2012) performed exome sequencing but did not identify any causative variant.