Table 1: Presence of nystagmus in Ophthalmologic syndromes and triads

Syndrome/Triad

Incidence of nystagmus

Other signs

Upper neuron disorders (+)

Charcot’s triad

High

Intention tremor, nystagmus, staccato speech

+

 

Peliazeus-Merzbacher disease

High

 

+

Mitchap 60 disease

High

 

+

Metachromatic leukodystrophy

High

 

+

Refsum disease

High

 

+

Zellweger disease

High

 

+

Alexander disease

High

 

+

Canavan disease

High

 

+

Krabbe' disease

High

 

+

Vanishing white matter

High

 

+

Aircadi-Goutie'res syndrome

High

 

+

“Mais- Nadim Nasser TRIAD”

High

Primary hypotonia, nystagmus, abnormal BERA test

+

Spasmus nutans

High

Pendula nystagmus, head nodding and torticollis.

+ spontaneous recovery after 1st year

Optic disc (foveal) hypoplasia.

High

nystagmus,

Local ophthalmic cause

Gaucher disease

rare

Trismus, strabismus, and opisthotonus.

+ Upper neuron storage disease

Kearns-Sayre syndrome

rare

External ophthalmo-plegia, pigmentary retinopathy, cardiac conduction block

 

Congenital glaucoma

 

rare

Epiphora, blepharospasm and photophobia.

 

 

Horner's syndrome

rare

Ptosis, miosis, ipsilateral anhidrosis of face

 

Lambert–Eaton myasthenic syndrome

rare

Muscle hypotonia, autonomic dysfunction, hyporeflexia

Neuromuscular junction-Lower motor neuron

Fechtner's syndrome

 

rare

Nephritis, sensorineural hearing loss, eye abnormalities

 

Congenital rubella retinopathy

 

Low

cataracts, deafness, congenital heart disease

 

 

This table shows the syndromes in pediatric Ophthalmology, according to etiologies with high or low incidence of nystagmus, and according to upper and lower neuron injuries.

 It also emphasizes that ICN is a major sign in all myelin disorders, including Multiple sclerosis, Paleazeus-Mertzbacher disease, Metachromatic leukodystropy and etcetera.