Chorea, Remitting, With Nystagmus And Cataract

Wheeler et al. (1993) described 2 brothers, born of healthy unrelated parents, with the association of mild chorea, monocular horizontal nystagmus, and cataracts. In the 11-year-old brother, abnormal head and body movements improved after the age of 6 years but were obvious when he was stressed. Nystagmus gradually improved and was not apparent since the age of 6 years. His anterior and posterior wedge-shaped subcapsular cataracts did not markedly impair his vision. His 5-year-old brother still had chorea and nystagmus. His cataracts were similar to those in his brother. Metabolic screen of the urine was normal in both brothers. Although some manifestations in the brothers were similar to those in benign hereditary chorea (118700), Wheeler et al. (1993) considered this association to be a distinct autosomal recessive or X-linked recessive syndrome.