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Pediatric Syndromes 2

Terms in this set (71)

What are the two main forms of albinism?
1. ocular albinism (OA)
2. Oculocutaneous albinism (OCA)
what is ocular albinism? how is it inherited?
X linked disorder than only affects the pigment in the eyes
what are the ocular symptoms of ocular albinism?
- nystagmus
- reduced vision
- strabismus
- high RE
- photophobia
- iris translucency
- foveal hypoplasia
- abnormal VEP (all of the fibers cross)
which type of albinism is X linked?
ocular albinsim
which type of albinism is autosomal recessive?
Oculocutaneous albinism
what all does oculocutanrous albinism involve?
loss of pigment in the hair, skin and eyes
OCA1:
no pigment anywhere
- complete lack of pigment
- white hair and skin
- moderate to severe visual impairment
- classic tyrosinase negativity
OCA2:
various amounts of pigment
- some pigment, yellow or blonde hair
- less severe visual impairment compared to OCA1
which type of Oculocutaneous albinism has more ocular side effects
OCA1
which type of oculocutanous albinism is tyrosinase positive? what does that mean?
OCA2 - hairbulbs incubated in a chemical solution of tyrosine DO make pigment
tyrosinase negative means....
hairbulbs incubated in a chemical solution of tyrosine do NOT make pigment = OCA1
are children with albinism in the mainstream school system?
yes - regular classroom
- may need special attention to their visual needs
what is the typical working distance of a child with albinism
- very close working distances
- also: maybe a head tilt
what is a common way to manage an albino pt?
low vision referal
what are ways to help an albino exceed in school
- high contrast reading material - good lighting, black on white
- large print
- autiotapes
- copies of teachers notes
- Low vision devices
- computers with large characters
Marfans syndome is a disorder of....
connective tissue
marfans is autosomal dominant or recessive?
marfans: autosomal dominant
- reason family hx is so important in marfans
what are some systemic features of marfans?
1. cardiovascular
- aortic root dilation
- mitral valve prolapse
-aortic dissection
- aneursym formation
2. skeletal
- tall and slender
-arachnodactyly (long fingers)
-scoliosis
-flat feet
- chest bone sunken in or protrudes out
what are ocular manifestations of marfans?
- ectopia lentis (lens disslocation)
- cats
- high myopia
- retinal detachment
- glc
- strab
what syndrome is characterized by part of or all of one X chromosome is missing?
Turner's syndrom
what are the ocular signs in Turners syndrome?
- strab
- ptosis
- red green defect
what are physical structures of Turner' syndrome?
- females
- short stature
- webbed neck
- amenorrhea - no period
- prominent auricles
- short mandibles
- infraorbital skin creases
what type of inheritance is Sturge Weber?
sporatic inhertitance
is Sturge Weber more common in males or females
struge weber: males
in what race is stuge weber less noticeable?
african americans
*it is NOT less common, you just dont notice it as much
what is the classic triad of sturge weber?
1. port wine stain on face (lid nevus)
2. intracranial angiomas
3. glc
(1/3 of pts develop unilateral glc)
what disease should you consider if your pt has unilateral glc
Sturge Weber
what are the ocular signs of Stuge Weber
lid nevus - does not blanch with pressure
conjunctival and episcleral vascular lesions - angiomas
Unilateral glc - abnormal episcleral venous pressure, abnormal angle structure, upper lid or conjunctival hemangioma increases risk of congential glc
Choroidal hemangiomas , Buphthalmos, and meningeal hemangiomas are common in...
Struge Weber
What is a nystagmus?
- involuntary movements of the eyes
what is the VA associated with nystagmus?
there is a range
why do many pts with a nystagmus turn or tilt their head?
to locate the null point
what is the null point?
the location of the eyes that decreases the frequency of the eye movements and allowing for better vision
is horizontal nystagmus more or less common than vertical
horiztonal nystagmus > vertical nystagmus
what is the etiology of horizontal nystagmus?
idiotpathic
sensory deficit nystagmus has what kind of movement in primary gaze
sensory deficit nystagmus = pendular in primary gaze, jerk on lateral gaze
what causes sensory deficit nystagmus?
early bilateral impairment (before 2 yrs) which prevents normal fixation reflexes from developing
can a sensory deficit nystagmus develop after 6 yrs old?
no
what are some causes of sensory deficit nystagmus
- dense cats
- albinism
- optic nerve anomlaies (hyperplasia or atrophy)
- typically anterior to visual pathway problem
what is a latent nystagmus -- when does it present
- very rare type of nystagmus that presents when one eye is covered
where is fast and slow phases in a latent nystagmus?
- fast phase is away from covered eye (to the ear)
- slow phase to the nose
what are latent nystagmus commonly associated with
strab
when does a manifest latent nystagmus occur?
- fast phase towards the fixating eye WITHOUT occlusion
- with occlusion of the non-fixating eye: intensity increases
where will the head be tilted to in a manifest latent nystagmus
manifest latent nystagmus: head tilt to the fast component (head tilts to the fixating eye)
what is the triad associated with spasmus nutans?
1. asymmetrical pendular nystagmus
2. head turn
3. shaking or nodding the head
onset of: spasmus nutans
6 months and - 3 yrs
when does spasmus nutans resolve?
spontaneously resolves over one or two yrs
when is the onset of a congenital nystagmus
- develops the condition by two to three months of life
is a congenital nystagmus bilateral or unilateral
congenital nystagmus: bilateral
is a congenital nystagmus horizontal or vertical
congenital nystagmus: horizontal
is a congenital nystagmus pendular or jerk?
congenital nystagmus: pendular OR jerk
what is pneumonic for a congenital nystagmus?
FUNBLOCS
f- fixation worsens the nystagmus
U- upgaze, the nystagmus remains horizontal
N- null point is present
B - bilateral and conjugate between the 2 eyes
L - latent component presnt
O - OKN response is not superimposable over then nystagmus in 2/3rd of patients
C - convergence makes it BETTER
S- pts are usually symptomless
what are some medications used in the tx of nystagmus?
BOTOX - paralysis of extra ocular muscles, must be repeated every few months
Gabapentin
*comes with SE
how can optical lenses be used to tx a nystagmus?
-1.00 over rx to stimulate accommodation and convergence (congenital is dampened in convergence)
how can prisms be used to tx a nystagmus?
7 BO OU to stimulate convergence
- prism placed Base away from the null point - eyes will conjugate towards the null point
what are the sx options used to tx nystagmus?
- Kestenbaum procedure - gets eyes to the null
- Large recession procedure - weakens 4 recti muscles
what is a neurofibromatosis?
oculoneurocutaneous syndrome with multisystem involvement with wide variety of clinical symptoms and signs
NF1: peripheral or central
NF1: peripheral
- associated with older fathers
- more common than NF2
- no racial or sexual preference
NF2: peripheral or central
NF2: central
- less common than NF1
- AKA: MISME (multiple inherited schwannomas, meningiomas and ependyomas)
what are the systemic effects of NF1- peripheral
- Café au lait (presenting sign)
- freckling
- scoliosis - long bone issues
- tumors of peripheral or cranial nerves
- mental retardation
-endocrine problems
what are some ocular manifestations of NF1 - peripheral
- Lisch nodules
- nodular neurofibroma
- plexiform neurofibroma
- diffused or localized neurofibromas on conjunctiva
- optic nerve gliomas
- multiple choroidal nevus
- choroidal neurofibroma
- glc
what is the disgnostic criteria for NF1
must have 2 out of 7
- > 6 Café au lait spots
- freckles in axilla or inguinal region - Crowes sign
- Skin neurofibromas
- optic nerve glioma
- iris lisch nodules >2 lesions
- ossesous lesion - sphenoid dysplasia or long bone abnormalities
- relative with NF1 with about criteria
Which type of Neurofibratosis is a multisystem disorder with prominent features of CNS tumors and early onset of posterior subcapusular cats
NF2
what are the system signs of NF2
Café au lait spots
skin plaques
CNS tumors ( acoustic neuromas, spinal cord schwannomas, intracranial meningioma)
what are the ocular signs of a NF2 - central
- posterior subcapsular Cat
- harmatoma of the retina and RPE
- epiretinal membranes
what is the diagnostic criteria for NF2
1 of the below:
- bilateral 8th cranial nerve tumor
- unilateral 8th CN tumor
AND A RELATIVE

2 of the below:
- meningioma
- glioma
- Schwannoma
- juvenile posterior sub cap lens opacity
AND a relative
how is blepharaophimosis inherited
blepharaophimosis: autosomal dominant
what are the ocular signs of belpharophimosis
- bilateral ptosis
- epicanthis inversis
- small horizontal aperture
- hypoplasia of the superior orbital rim
- telecanthis
- hypoplastic nose bridge
- may have strab or nystagmus
what is Ehler- Danlos? how is it inherited?
Ehler-Danlos:
genetic disorder that affect collagen and extracellular matrix synthesis and structure
- autosomal dominant, recessive OR X linked
what are the ocular signs of Ehler-Danlos ?
-angoid streaks - also seen in pseudoxalanthema
- carotid cavernous fistula
- dermatochalasis - the collagen doesnt hold the fat in
- keratoconnus - also seen in osteogenisis imperfecta (collagen problem)
-glc
what tests should be done on a ehler-Danlos pt
- corneal topography
- scanning laser oph
- corneal thickness
-palpebran aperture measurement
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