New genetic, pathophysiologic, and therapeutic issues in nystagmus

Nystagmus may have onset in infancy or adulthood. Infantile-onset nystagmus is commonly associated with genetic disease, and recognition of the various genetic and nongenetic diseases in which it may develop has led to the understanding that nystagmus is often a response of the oculomotor system to an early-onset, bilateral abnormality of vision. Adult-onset nystagmus most often develops as a result of nongenetic neurologic disease, and it manifests in a variety of patterns. Genetic studies have allowed further identification of the genes and genetic loci associated with nystagmus, and careful eye-movement recordings in patients with various patterns of nystagmus have further clarified the oculomotor pathophysiology.