a mass, like a meningioma, involving the olfactory groove or sphenoid ridge. the mass compresses one optic nerve, causing optic atrophy and increases ICP resulting in papilledema in the contralateral eye.
What is the cause of Parinaud's syndrome?
lesion in the dorsal midbrain affecting the superior colliculi and pretectum.
What are the findings in Parinaud's syndrome?
1) paralysis of upgaze and accommodation
2) light-near dissociation
3) eyelid retraction (Collier sign)
4) convergence-retraction nystagmus on attempted upgaze.
a person can see moving fingers but not still fingers.
What are the characteristics of spasmus nutans?
1) titubation/nodding of the head
decreased visual acuity assocaited with increased temperature. it is seen in optic nerve disease.
What is von Graefe sign and when can it be seen?
- when during downward gaze there is a lag of the upper lid
- can be seen in thyrotoxicosis.
ipsilateral CN3 palsy and contralateral weakness.
due to a lesion in the ventral midbrain involving CN3 and the cerebral peduncle.
This syndrome is characterized by the following triad:
- agenesis of the corpus callosum
- infantile spasms
- chorioretinal lacunae (can also see optic nerve coloboma)
What are the genetics of Aicardi syndrome?
This is a type of recurrent vasculitis and can be associated with recurrent meningoencephalitis:
What is the classic triad of Bechet disease?
- oral ulcers
- genital ulcers
What is chronic progressive external opthalmoplegia?
- mitochondrial disease that begins after age 20.
- characterized by progressive bilateral ptosis and loss of eye movements.
Homocystinuria is associated with this:
downward lens subluxation
What is Kearns-Sayre syndrome?
- mitochondrial disorder
- can have progressive external opthalmoplegia
- pigmentary retinopathy
- elevated CSF protein
- cerebellar syndrome
- endocrine abnormalities
- heart block
- mitochondrial myopathy
What is Leber's Hereditary Optic Neuropathy?
bilateral optic neuropathy due to a mitochondrial DNA point mutation.
How does LHON present?
as a painless loss of central vison usually beginning in adolesence or early adulthood.
What causes locked in syndrome?
bilateral ventral pontine lesions.
What are the two things patients can do with locked in syndrome?
blink and move their eyes vertically
What is oculopharyngeal muscular dystrophy?
ptosis and impairment of EOM without diplopia.
starts in the 5th decade of life
can also have swallowing difficulty
what causes oculopharyngeal muscular dystrophy?
GCG repeat expansion in the gene encoding PABP2 on chromosome 14
what does the pathology in oculopharyngeal MD show?
What is NARP?
Neuopathy, Ataxia, retinitis pigmentosa
What is the most common presentation of NARP?
What causes NARP?
mitochondrial disease. due to an ATPase point mutation
What diseases cause a cherry red spot?
- Farbers lipogranulomatosis
- GM1 gangliosidosis
- Sandhoff disease
- Tay Sachs
- Neimann Pick Disease Type A
What is opsoclonus myoclonus associated with?
- childhood neuroblastoma
- adults with anti-Ri AB which is associated with breast, gynecologic and lung cancers.
What is Susac's syndrome?
microangiopathy involving the brain, retina and cochlea that usually presents in young women.
What is the triad of Susac's syndrome?
1) branch retinal artery occlusions (BRAO)
3) sensorineural hearing loss
What are the typical brain MRI findings in Susac syndrome?
multiple areas of high T2 signal, may resemble MS. involve the gray and white matter. the corpus callosum is often involved.
What is the triad that characterizes Wernicke Encephalopathy?
1) oculomotor palsy
2) ataxia of gait
What is the cause of whipple's disease?
gram positive bacillus (Tropheryma whippelii) which is PAS +
what is the classic triad of Whipple disease?
2) supranucelar gaze palsy
What is Wolfram Syndrome?
a constellation of diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD)
What can cocaine cause in terms of eye movements?
What eye findings to ethylene glycol cause?
non reactive pupils and loss of corneal reflexes
what eye findings can ethambutol cause?
what eye findings can vigabatrin cause?
bilateral concensual visual field defects with relative temporal sparing
What eye findings can thioridazine cause?
What is Charles Bonnet Syndrome?
where patients with vision loss see things in the space where vision is lost.
What characterizes Dementia with Lewy Bodies?
- degenerative dementia
- fluctuating levels of alertness
- visual hallucinations
- parkinsonian features
- sensitivity to neuroleptics
in patients with epilepsy, where do formed visual auras arise from?
in patients with epilepsy, where do simple, unformed visuals auras arise from? (like flashing lights)
what can nacolepsy be associated with?
hypnopompic or hypnagogic hallucinations
What are peduncular hallucinosis?
vivid images seen following midbrain injury
What is the most common genetic cause of visual impairment?
Leber congenital amaurosis
What part of the eye has the highest visual acuity?