Optic atrophy polyneuropathy deafness


A very rare disorder involving eye, ear and nerve disorders.


* Distal muscular atrophy * Progressive optic atrophy * Hearing loss * Loss of vision * Polyneuropathy of limbs * Optic atrophy * Peripheral neuropathy * Reduced sensation in hands * Reduced sensation in feet * Impaired color vision * Reduced pain sensation


Optic atrophy usually results from central nervous system disorders (such as chiasmal tumors, syphilis, ischemic optic neuropathy, drugs, retinal vascular disease, or degenerative disease) or from end-stage glaucoma. Other causes include retinitis pigmentosa; chronic papilledema and papillitis; glaucoma; trauma; central retinal artery or vein occlusion that interrupts the blood supply to the optic nerve, causing degeneration of ganglion cells; ingestion of toxins, such as methanol and quinine; and deficiencies of vitamin B 12, amino acids, and zinc. There are several rare forms of hereditary optic atrophy that can affect children and young adults.


Sensory neuropathy symptoms include positive phenomena such as tingling; pins/needles; and burning, cold, or lancinating pain. Physical findings include weakness, fasciculations, atrophy, ataxia, wide-based gait, abnormal sweating, decreased or absent deep tendon reflexes, orthostatic hypotension, hypesthesia surrounded by a zone of hyperesthesia, and vibration or position sense affected before pinprick or temperature sense. Autonomic neuropathy symptoms include impotence, retrograde ejaculation, diaphoresis, incontinence, urinary retention, constipation, diarrhea, orthostatic dizziness, and flushing. Physical findings include delayed pupillary light response, resting tachycardia, sinus arrhythmia, and orthostatic hypotension. Sensory loss confined to part of a limb suggests injury to a peripheral nerve, plexus, or spinal root, resulting from trauma, entrapment, or vascular insufficiency. Mononeuropathy multiplex affects multiple nerves over time (e.g., due to diabetes or vasculitis). Polyneuropathy occurs in a stocking-glove distribution starting with the longest nerves, and is due to axonal neuropathy, with a toxic or metabolic origin. Bilaterally symmetrical symptoms are found in polyneuropathy or spinal cord lesions, while unilateral involvement is seen in contralateral disease of the brainstem, thalamus, or cortex. Injury to large myelinated nerves produces decreased light touch and proprioception with a sensation of “walking on a thick carpet” or imbalance. Injury to medium fibers causes decreased light touch and vibration sense. Injury to small unmyelinated fibers, as occurs in diabetes or amyloidosis, decreases pain and temperature sensation and produces dysesthesias. Disproportionate loss of vibration sense and proprioception compared with pain and temperature sensation occurs with diseases of the dorsal column of the spinal cord (e.g., neurosyphilis, vitamin B 12 deficiency, or multiple sclerosis) and demyelinating polyneuropathy. Transverse cord lesions produce loss of all modalities below the level of the lesion and a band of hyperalgesia at the level of the lesion. Lateral cord compression is heralded by early sensory changes. Dorsal cord compression affects proprioception and tactile discrimination without pain or temperature loss. Pernicious anemia and tabes dorsalis preferentially affect the dorsal columns.


Optic atrophy is irreversible, so treatment aims to correct the underlying cause and prevent further vision loss. Steroids may be given to decrease inflammation and swelling, if the cause is found to be ischemic neuropathy. If a space-occupying lesion is the cause, neurosurgery may be required. In multiple sclerosis , optic neuritis often subsides spontaneously but may recur and improve repeatedly.