The severity and prognosis vary with the type of mutation involved.
Neuropathy, ataxia, and retinitis pigmentosa
Uveitis–Glaucoma–Hyphema syndrome
Multifocal choroiditis and panuveitis
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Erythrokeratodermia with ataxia
Tubulointerstitial nephritis and uveitis
Arthrogryposis–renal dysfunction–cholestasis syndrome
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome