Peds Flashcards
Embryology - 22 days
Optic primordium appears in neural folds
Embryology - 25 days
Optic Vesicle evaginates. Neural crest cells migrate to surround vesicle.
Embryology - 28 days
Vesicle induces lens placode
Embryology - 2nd Month
Invagination of optic and lens vesicles
Hyaloid artery fills embryonic fissure
Pigment granules appear in RPE
lateral rectus and superior oblique muscles grow anteriorly
Eyelid folds appear
Retinal differentiation begins
Migration of retinal cells begins
Neural Crest cells of corneal endothelium migrate centrally (corneal stroma follows)
cavity of lens vesicle is obliterated
Secondary vitreous surrounds hyaloid system
Choroidal vasculature develops
Axons from ganglion cells migrate to optic nerve
Glial Lamini cribrosa forms
Bruch’s membrane appears
Embryology 3rd Month
Precursors of rods and cones differentiate
Anterior rim of optic vesicle grows forward and CB starts to develop.
Sclera condenses
Vortex veins pierce sclera
Eyelid folds meet and fuse
3 types of XT
- convergence insufficiency
- divergence excess
- primary/idiopathic
Embryology -4th month
retinal vessels grow into RNFL at optic disc Folds of ciliary processes appear Iris sphincter develops Descemets membrane forms Schlemms canal appears Hyaloid system starts to regress Glands and Cilia develop
Embryology 5th Month
Photoreceptor inner segments develop
Choroidal vessels form
Iris stroma is vascularized
Eyelids begin to separate
Embryology - 6th Month
Ganglion cells thicken in the macula
Recurrent Atrerial brances joing the choroidal vessels
Dilator muscle forms
Embryology - 7th Month
Outer segments of photoreceptors differentiate Central fovea starts to thin Fibrous lamina cribrosa forms Choroidal melanocytes produce pigment Circular muscle forms in CB
Embryology - 8th Month
Chamber angle completes formation
Hyaloid system disappears
Embryology - 9th Month
Retinal vessels reach periphery
Myelination of nerve fibers are complete to the lamina
pupillary membrane dissapears
What is the name for the celluar area of retinal proliferation at the leading edge of the vasculature in the ember
Vascular Anlage
Types of abnormal small eyes
Microphthalmos with cyst. - clinically when you open the lids the cyst tends to be infront as a retina
Embryonic Fissure
Closure at 6 weeks - closes inferonasally (This is where we get colobomas
Ocular features of Trisomy 13
Microphthalmia, lens is catatractous, persistant hyaloid primary vasculature with cartilage behind lens, dyspalastic retina.
Die by 6 months.
Part of ddx of intra-ocular cartilege, and retained lens nuclei
Synophthalmia
Associated with Holoprosencephaly and the
Acardi Syndrome
rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal abnormalities (peripapillary retinal colobomas), and seizures in the form of infantile spasms. Aicardi syndrome is theorized to be caused by a defect on the X chromosome as it has thus far only been observed in girls or in boys with Klinefelter syndrome.
Peters Anomaly
Type 1 – posterior defect - leukoma plus iridocorneal adhesions
Type 2 – leukoma + iridocorneal adhesions + lenticulocorneal adhesions
Peters Plus – above + renal, cardiac, genitourinary, cleft palate.
Pathology - Look for abscence of DM.
RECALL: DM is PAS +’ve and so is the lens capsule, look for both of them.
AD - PAX6
Long term sequelae includes posterior keratoconnus
Tuberous Sclerosis
Astrocytic hamartoma
Pilomatrixoma
Occur in children - tend to be in brow
Limbal Dermoid
Think about Goldenhaar syndrome
Meesman’s Juvinille
Kids with tearing and RCE
PPMD
endothelium behaving like epithelium, snail tracks.
CHED
Type 1 - no nystagmus but tearing, photophobia, AD, presents later
Type 2 -
Rubella Keratitis
congenital corneal opacifcation
Cystinosis
crystaline keratopathy
Marfan Syndrome
AD - FBN1 gene CHromosome 15, Encodes forfibrillin 1. 25% are sporadic. Ocular findings, abnormal ciliary processes and absent or disorganized zonules (tend to sublix superotemporally. Risk of: bilateral ectopic lentis RD Lattice early vitreous liquéfaction Choroidal and scleral thinning, flat cornea KC Glaucoma, strab
diagnostic criteria for Marfans
Aortic root z score >than 2 SD above the norm + ectopic lentis or + FBN1 gene or + systemic signs (learn a list of 6 or 7)
Ectopia Lentis
Trauma
Homocystinuria - AR - methionine - (develop seizures, osteoporosis, MR, prone to thromboembolism)
Hyperlysinemia
Weiil Marchesani syndrome
Sulfite oxidase
Others - ectopia lentis et pupillae (eccentric pupils, AR)
Dacaryoadenitis
Infectious - Virus (EBV, CMV,HSV, Mumps), bacterial (S. Aureus,
Inflammatory - Sjogrens, Sarcoid, Wegners, thyroid
Infiltrative - pleomorphic adenoma, lymphoma, adenoid cystic ca.
How do you differentiate between a Browns and Inferior Oblique palsy
In Brown’s syndrome you see a V pattern - (Recall the OBliques are working so they will Abbduct on up gaze . Whereas, in an inferior oblique palsy the abductors are not working so on upgaze when you are in upgaze they will adduct seeing an A pattern
Ddx of congenitally reduced vision with normal exam
Retina:
- LCA
- rod or cone dystrophy
- achromatopsia
- blue cone monochromatism
- CSNB
- albinism
ON
- subtle hypoplasia
- optic atrophy
Occipital
- infarcts
- hypoplasia
- congenital TORCH
- delayed visual maturation
Leukocoria
Pink Roses Can Calm The Night
PHPV RB, RD, ROP Coats, Coloboma, Cataract Toxocara Norrie's
High myopia in children
Idiopathic Congenital glaucoma ROP Down's CSNB spherophakia Marfan's, Stickler's
Pseudostrabismus ddx
Dragged macula (ROP, toxocara, incontinentia pigmenti) Wide-nasal bridge Positive or negative angle kappa Epicanthus Hypertelorism
Abnormal head posture
Strabismus (horizontal, vertical, torsional)
Nystagmus
Infantile VF defect
Ptosis
Neck problems
Glasses
Conditions with torsion
SO palsy / overaction IO palsy / overaction IO myokymia Torsional nystagmus Restriction
Child with left hypotropia. DDx?
Left eye hypo:
- left superior orbital mass
- left SR weakness
- left IO weakness
- left IR tethering
- left orbital floor #
Right eye hyper:
- right SO palsy
- right IR palsy
- right IO overaction
- right inferior orbital mass
- right SR tethering
Overelevation in adduction
ipsi IO overaction
ipsi SO palsy
DVD
Features of congenital nystagmus
CONGENITAL
- better with Convergence
- no Opsoclonus
- there is a Null point
- no change with Gaze position
- Equal OU
- Near va better than distance (because it dampens with convergence)
- Inversion of OKN
- head Turn is present (for null point)
- Absent during sleep
- there is Latent nystagmus
Ddx of congenital nystagmus
- Congenital motor nystagmus
- Brain lesion causing nystagmus
- Sensory deprivation (lens, vitreous, retina, fovea, ON)
Type of JRA most likely to get anterior uveitis
RF -
ANA +
pauciarticular (
Ddx of congenital ptosis
Levator dehiscence (trauma) Levator dysgenesis (idiopathic/familial) Neurogenic (CN 3 palsy, Horner's) NMJ (Myaesthenia) Mechanical (lid tumors, chalazia, neurofibroma, etc)
Eye syndromes with deafness
Usher Syphillis Polyarteritis nodosa Goldenhaar Cogan Alport Wardenberg
What is Herman Bieloschowsky and what do you worry about
Monocular nystagmus of childhood
Worry about ON/chiasm lesion - image
Secondary tumors in RB
Melanoma
Osteogenic sarcoma
Breast
Lymphoma, leukemia
Paradoxical pupil response in (3)
CSNB
Achromatopsia
ON hypoplasia
Orbital cellulitis in child, indications for surgery
- > 9 yo
- gas on CT (shows its anaerobic)
- any signs of optic nerve compromise
- dental source
- chronic sinusitis
- frontal extension (frontal sinusitis, brain involvement)
- recurrent orbital infxn
Capillary hemangiomas - 3 things to worry about
Kassabach Meritt - consumptive coagulopathy (plt’s)
Left sided heart failure
May have other hemangiomas - e.g. subglottic - always get ENT consult pre-op
Benign orbital masses in kids (big categories)
Vascular (hemangiomas, varix, lymphangiomas)
Neural tissue (glioma, neurofibroma, Schwannoma)
Choristomas (dermoid, lipo-dermoid, epidermoid)
Other (fibrous dysplasia, IOI, mucocele, thyroid)
Malignant orbital masses in kids
Primary or secondary
Primary: RB!!!, glioma, meningioma, histiocytosis
Mets: neuroblastoma, Ewing sarcoma
Secondary extension: Burkitt’s lymphoma from maxillary sinus
Telecanthus ddx
FAS
Blepharophimosis
Wardenburg
Lacrimal fistula - symptoms, how to investigate and treat
Tearing at MEDIAL canthus (epiphora is always lateral)
May have recurrent dacryocystitis
Mucous on skin near nose
Look for the fistula
Check puncta
Dye disappearance test
Treat:
- probing may resolve it
- cautery has poor outcomes
- you can excise it (excise completely including the whole tract) +/- stenting if needed
- DCR if needed
Nevus of ota - risks to eye
Glaucoma
Uveal/orbital melanoma
Chlamydia - complicaitons and rx
Gastritis, pneumonitis, otitis, nasopharyngitis
Rx with topical erythro, oral erythro
Treat mother and sexual partners with doxy or azithro
Gonorrhea - rx
IV ceftriaxone, topical vigamox
Treat for chalamydia at the same time
VKC features
GLHT SRK
- male>female
- warm months
- GPC
- Limbal follicles
- Horner Trantas dots
- Shield ulcer
- Ropy mucous
- Filamentary keratitis
Ligneous features
Girls > boys Bilateral or unilateral Pseudomembranous conjunctivitis Woody plaque May bleed if excised - highly vascular Same process affects all mucous membranes (mouth, vagina, etc) --> get an ENT consult to ensure no throat involvement before removing; if it bleeds a lot they may need GA with intubation
axial length at birth
16 - 17 mm
lens dimensions at birth
6.5 x 3.5 mm
corneal diam in infancy
10, 11, 12 mm @ birth, 1, and 2 years (respectively)
Why do all infantile pupils seem big
Constrictor pupillae is immature at birth
Congenital lid colobomas - upper or lower
upper
Congenital ectropion/entropion - upper or lower
lower
Blepharophimosis features
Epicanthus inversus
Ptosis
Telecanthus
Lid phimosis
Are most prego’s suspectible or immune to toxoplasmosis
70% seronegative
What is the most common cause of posterior uveitis in kids
Toxoplasmosis
Rubella - ocular manifestations
Cataract or glaucoma - don’t get both together because they occur at different points in gestation
Salt and pepper retinopathy
Do rubella ever get glaucoma and cataracts together?
No - only one or the other, depending on when in gestation the infection happens
Be careful of rubella cataract sx because…
Live virus can persist in the cataract for 3 years
- tons of inflammation after surgery
- make sure everyone in the room during surgery is vaccinated
Most common congenital infection
CMV
Hutchinson’s triad of congenital syphillis
Interstitial keratitis
Peg shaped teeth
Hearing loss (CN 8)
EKC - type of adenovirus
Type 8
Pre-septal cellulitis organism
Staph aureus (from skin trauma)
Orbital cellulitis organism in kids
H flu
Which muscle is hardest to find if it slips and why
MR - has no fasical attachments
IO surgery - what 4 anatomical things do you need to identify
- IO
- IR
- LR
- infero-temporal vortex vein
IR/SR act purely vertical in what eye position
23 degrees ABducted
IO/SO - act purely vertical in what eye position
51 degrees ADDucted
What type of amblyopia is least affected by neutral density filters
Strabismic
double check this
What type of ambylopia is most affected by crowding
Strabismic
What levels of ametropia do you need to start getting amblyopia (hyperopia, myopia, or astigmatism)
Hyperopia > +5
Myopia > -8
Astigmatism > 2.5D
What levels of anisometropia do you need to start getting amblyopia
Hyperopia > 1
Myopia > 3
Astigmatism > 1.5
What are the 3 causes of amblyopia (broad categories)
Strabismic
Deprivational
Refractive
Eye findings in Kawasaki (and systemic)
Conjunctivitis
Fever x 5d Conjunctivitis Strawberry tongue Injected pharynx Palmar erythema Desquamating rash Lymphadenopathy
Treatment of kawasaki
ASA
Risk of kawasaki
Coronary artery vasculitis –> MI
Cannaliculi - measurements
2-8-10 mm
Where will a mass of the lacrimal sac present
Under the medial canthus
Where is the obstruction in a dacryocystocele
Double obstruction - valve of Hasner (inferior opening) and Valve of Rosenmuller - entry to sac)
What is your ddx of a dacryocystocele
Mucocele
Meningocele, encephalocele (present higher)
Vascular malformation
Other orbital tumor
What is your investigation of a dacryocystocele
Can ultrasound if you’re unsure of the dx
CT/MRI
Usually no investigations are needed as it’s a clinical dx
What is your management of a dacryocystocele
Get ENT consult to see if its obstructing the airway - esp if breathing or feeding difficulties, FTT, etc
ENT can marsupialise if needed
You can probe/irrigate if not resolving
Otherwise just massage, topical abx if infected
Risks - breathing difficulties or disseminated infxn from dacryocystitis
Marfan’s - ocular and systemic manifestations
Ocular: Lens subluxation (up and out) Myopia, high astigmatism KC amblyopia
Systemic: connective tissue problems joint problems, arthritis aortic anneurysms mitral valve prolapse, aortic insufficiency
Homocystinuria - ocular and systemic complications
Ocular:
- lens subluxation (down and in)
Systemic:
- thrombotic vascular events
- MR
Optic nerve hypoplasia - risk factors
Materal DM
Ingestion of LD, other substances
Optic nerve hypoplasia - investigations
MRI brain for de Morsier’s syndrome
Send to endocrine to rule out pituitary problems
Optic nerve hypoplasia - management
Send to endocrine to rule out pituitary problems
For the eye - think about amblyopia and treat
How does leukemia present in the retina
CWS
Roth spots, hemorrhages
What does Lowe’s syndrome give you (ocular)
Cataract and glaucoma
Ocular albinism - findings
- pale iris
- iris TID (even in carriers)
- pale retina
- foveal hypoplasia
- nystagmus
- photophobia
- high myopia
- strabismus
Aicardi - inheritance and findings
X-linked. Lethal in males
Lacunar chorioretinal degeneration
Agenesis of corpus callosum
MR
Fibrous dysplasia vs ossifying fibroma
Fibrous dysplasia:
- stabilises after skeletal maturity
- precocious puberty
- pigmented skin macules
Both can have ON compression
Difference is histological
Schwannoma - type of spread
Perineural
Neurofibroma of upper eyelid. Risks?
Glaucoma
Amblyopia (ptosis or astigmatism)
Neuroblastoma - where is the primary most often
Abdomen (adrenal gland)
2nd = retroperitoneal
mets @ presentation in 1/3 of cases
What part of the brain controls pursuit
Parietal (that’s why abnormal OKN towards the side of the lesion)
What part of the brain controls saccades
Frontal (FEF)
What is cogan’s dictum
Homonymous hemianopia
- with abnormal OKN = parietal
- with symmetric OKN = occipital
What do you rule out in spasmus nutans
Can look like monocular nystagmus of childhood so rule out nerve or chiasmal tumor (image)
Ocular findings in axenfeld reiger’s
Posterior embryotoxin (anteriorly displaced Schwalbe's line) Iris hypoplasia with holes
What is Allagile’s
Axenfeld Reiger + pigmentary retinopathy + systemic findings
What is Peter’s syndrome
Opacified cornea
Name 5 iris nodules
- Brushfield spots - in Down’s - stromal hyperplasia surrounded by hypoplasia
- Lisch nodules - NF1 - hamartomas
- Iris nevi in ICE - heaped up iris stroma due to the endothelial membrane on top that contracts and tents up the stroma
- Iris cysts - often from phospholine iodide use
- JXG: yellow-orange spots. Touton on path. Bleed spontaneously.
How do you treat a medulloepithelioma
Watch
Excise
Enucleate
What do you find in Alport’s syndrome
Cataract
Hearing loss
Microspherophakia - ddx and management
Weill-Marchesani Alport Lowe's Hyperlysinemia Rubella Peter's
Use cycloplegics to flatten the lens and pull it back to relieve ACG
Cataracts - work up for bilateral
Hearing tests: Alport, Rubella
Urine tests: reducing sugars (galactosemia) and amino acids (Lowe’s)
Genetics: Trisomy 13, 18, 21
Blood tests: blood sugar (DM), calcium, TORCH titres, RBC galactokinase (galactosemia)
Alport & Lowe’s are x-linked so only w/u boys
Cataracts - work up for unilateral
TORCH titres
family history
do a good eye exam (both eyes)
Cataracts, bilateral - when do you intervene
Visually sig is >3 mm usually
Operate on BETTER eye first. Aim for 6-8 weeks old, then second eye 1 week later
Ddx of cataract + glaucoma
Lowe’s
Hallerman-Streiff
Rubella (very rare)
ROP - screening criteria (canada)
birth weight
ROP - when do you do their first exam
Either 4 weeks after birth, or 31 weeks GA, whichever is LATER
ROP - what is threshold dz
Zone I or II
Stage 3
With plus
5 continuous or 8 cumulative clock hours
ROP - what do you do for threshold dz and when
3 options:
- cryo
- laser
- anti-VEGF
Treat within 72 hours. Treat whole avascular retina
ROP - what is pre-threshold dz
Think of it as anything that doesn’t quite meet threshold:
- Zone I, any stage with plus
- Zone I, stage 3 no plus
- Zone 2, stage 2 with plus
What did we learn from CRYO-ROP
Defined threshold dz
And said cryo worked
What did we learn from ETROP
Said treating pre-threshold dz is also probably a good idea Used laser (?)
How often do you follow ROP kids and when do you stop
Every 1 or 2 weeks depending on the severity (it’s kind of complicated….)
Stop when zone 3 is vascularized
Or if all good at 45 weeks
How can you make an ROP exam easier on the newborn
Cooperative nursing staff Swaddle Soothers Use sugar Topical anaesthesia Stop if the HR drops
What are treatment options for RB
Chemo or enucleation are mainstays of treatment
RT/plaque are second line
If you enucleate RB, how much ON do you want to remove
> 10 mm
What imaging do you want to get in RB
Look at pineal gland
What is your initial metastatic w/u in RB
Bone scan, LP
How do you investigate an RB
Anterior chamber LDH: plasma LDH >1.0 Check both eyes carefully B-scan = calcium, high internal reflectivity FA = early hyper, late leakage Orbital CT looking for calcium Brain MRI for pineal tumor Metastatic workup (bone scan, LP)
What are the second malignancies in RB
Melanoma
Osteogenic sarcoma
Breast ca
Lymphoma, leukemia
What are poor prognostic factors in RB
Optic nerve invasion
Uveal invastion
Extra-scleral extension
Multifocal tumors
Any metastatic dz at presentaiton
Unilateral = bilateral prognosis
What’s more common in kids, leukemia or lymphoma?
Leukemia
What is the inheritance pattern of phakomatoses? What are the exceptions?
All AD with incomplete penetrance except the Weird ones: sturge Webber and Wyburn mason are AR
- other exception: ataxia telangiectasia is sporadic
Dx criteria for NF1 (7)
- 1st degree relative with NF1
- > 2 lisch nodules
- > 6 cafe au lait spots (>5 mm pre-pubertal, >15 mm post-pubertal)
- 1 plexiform or 2 neurofibromas
- osseous dysplasia (e.g. sphenoid wing)
- intertiginous freckling
- optic nerve glioma
Dx criteria for NF2
Either
- 2 acoustic neuromas
- 1st degree relative with NF2 and either 1 acoustic neuroma or 2 of: meningioma, schwannoma, neurofibroma, glioma, PSCC
SWS - what do you need to rule out
Leptomeningeal vascular malformations
SWS - what is the mechanism of glaucoma
Combined:
- increased EVP from the conj lesions
- angle abnormalities from the hemangiomas growing over/in the angle
- neovascular
VHL - list all the findings (systemic + ocular)
Chromosome 3
Ocular:
- retinal angiomas
- may leak
- treat only if causing a serous RD
Systemic:
- cerebellar angiomas
- cysts and tumors of kidney, pancreas, liver, adrenal glands
- renal cell carcinoma
- pheochromocytoma
Tuberous sclerosis - retinal finding
Retinal astrocytoma
Tuberous sclerosis - triad
Adenoma sebaceum, mental retardation, and seizures
Tuberous sclerosis - skin findings
Ash leaf spots Shagreen patches Adenoma sebaceum Peri-ungal fibromas \+/- cafe au lait spot
Ataxia telangiectasia - ocular findings
Telangiectactic conj vessels
Impaired convergence
Nystagmus
Ocular motor apraxia
Ataxia telangiectasia - systemic concerns
Defective T cell function and IgA deficiency can cause recurrent infections or malignancies (leukemia/lymphoma)
Also get ataxia and MR
Retinal cavernous hemangioma - systemic association
None!
Unlike retinal capillary hemangiomas (VHL) or choroidal hemangiomas (SWS)
Brown’s features vs IO palsy
Brown’s Rx
Can’t adduct in upgaze
May have palpable click or audible click
May be associated with systemic inflammatory dz
No associated SO overaction
Brown’s will give you a V-pattern (eye can’t adduct in upgaze so it’s out) while IO palsy will give you an A pattern
Rx Brown’s with SO tenectomy, tenotomy, or silicone spacer
Epinephrine dose for anaphylaxis
IM: 0.3 - 0.5 mL of 1:1000
always remember ABC, call code, stop offending agent, etc
FAS features
Think of it mostly as lids:
- ptosis
- telecanthus
- short palpebral fissures
- microphthalmos
- ET
- refractive error
- amblyopia
- on hypoplasia
- ant seg dysgenesis
Crouzon features
This is a craniosynostosis:
Inferior scleral show Proptosis, globes can luxate forward Exposure keratitis V-pattern XT Therefore amblyopia Refractive error
High pressure in the head from suture closure can give you papilledema
And always look for ON pallor from the optic canal becoming narrowed
What is Apert
Craniosynostosis. It’s Crouzon + syndactycly
Goldenhaar - ocular and systemic features
Remember the whole thing is one side of the face is dysplastic. That side of body can have issues too.
Ocular:
- limbal dermoid
- lower lid coloboma
Ear:
- pre-auricular skin tag
- poor hearing
Systemic:
- cleft lip/palate
- vertebral anomalies
- can have dysplastia of the organs on that side of body - heart, lung, kidneys
Treacher Collins
Mandibular dysplasia
Pierre Robin - ocular association
Sticklers
think “Pierre Robin & Stickler are all friends” :)
Infantile vision at birth and 6 months
20/200-20/400 at birth
20/20 at 6 months (by VEP)
How do you measure infantile vision
VEP
or preferrential looking
Preferrential looking doesn’t give you 20/20 until a couple years old (may involve more than just vision i.e. processing, motor capabilities, etc)
VEP is 20/20 by 6 months