Characterized by early onset of bilateral optic
nerve atrophy resulting in partial visual field defects, and neurologic
symptoms including ataxia and spastic gait, mental retardation, nystagmus,
epilepsy, positive Babinski sign, and urinary incontinence. The disease is most
often progressive over an extended time, followed by a period of relative
stability. Lower limb contractures develop in up to 70% of patients.
These patients may present for lengthening of the Achilles tendon or release
of the adductors.