The neurological symptoms are progressive and can lead to severe spasticity, bulbar symptoms and dysarthria within one to two decades. The life span is shorter than normal. Death occurs between 2 and 30 years of age, depending on the severity of the syndrome. The immediate cause of death is pneumonia, fulminant intestinal bleeding or multiple organ dysfunction. If not treated, the retinal detachment can lead to ischemia and growth of new blood vessels over the iris and anterior chamber angle. This in turn can cause secondary glaucoma, cataract and, ultimately, blindness of the eye.
Cerebroretinal microangiopathy with calcifications and cysts
Intraretinal microvascular abnormalities
Punctate inner choroiditis
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Chronic relapsing inflammatory optic neuropathy
Diffuse unilateral subacute neuroretinitis
Progressive outer retinal necrosis
Giant retinal ganglion cells