Pediatric Ocular Disease Flashcards
What is the most likely etiology of congenital cataracts
unknown (up to 80%)
What are the 4 types of congenital cataracts
zonular, polar, nuclear, posterior lentoconus
What are the signs/ symptoms of a congenital cataract?
opacity of lens at birth, leukocoria, nystagmus (one or both eyes), strabismus, No APD
When would we want cataract extraction performed?
within days to weeks
What are 2 potential complications to congenital cataracts
amblyopia, glaucoma
According to the IATS study, what percent of children with congenital cataracts became glaucoma suspects or developed glaucoma?
33%
According to IATS, how did the costs of Surgery with IOL implant compare with costs of CL?
CL are more than double
Which type of retinoblastoma is curable?
Orbital disease
If retinoblastoma is _______________, prognosis is dismal
intracranial
What are the characteristics of PHPV?
often vascularized, can cause vascular traction, microphthalmos, shallow anterior chamber, cataract and persistent hyaloid artery
PHPV is the failure of the ___________ ___________ to regress
primary vitreous
What age is retinoblastoma usually diagnosed?
before age 2
Retinoblastoma is usually bilateral/unilateral
unilateral (75%)
What patients tend to have more advanced Retinoblastoma in the US?
hispanic, lower socionomic status
Retinoblastoma grows under the retina towards _________
vitreous
What are the 4 presenting signs of retinoblastoma?
leukocoria, strabismus, red painful eye with glaucoma, and poor vision
A DFE done under anesthesia with scleral depression is useful when looking for which disease?
Retinoblastoma
genetic causes of retinoblastoma is alteration in which gene?
RB1
When retinoblastoma is found in older children and unilateral it is usually n___-____________
non-heritable
all b___________ cases are presumed
heritable
What type of retinoblastoma causes the most deaths due to Retinoblastoma?
trilateral retinoblastoma
Decreased deaths and less eyes requiring enucleation due to retinoblastoma can be attributed to what
advances in treatment
What are the intraocular treatments for retinoblastoma?
chemotherapy/ chemoreduction; radiation therapy; laser therapy; brachytherapy; cryotherapy; enucleation
What are the extraocular treatments for retinoblastoma?
chemo or radiation directed at where the extension is; rarely gets this far in high income countries; often fatal if tumor spreads beyond the eye
Medical conditions (can be severe/ life-threatening); diminished orbital growth; visual field defects and hearing loss are all late effects that can happen following treatment for what disease?
Retinoblastoma
What are ocular findings of Stickler’s Syndrome?
high myopia, retinal detachments, cataracts, vitreous degeneration, glaucoma, pigmentary changes in the retina
What is the most common cause of retinal detachment in the pediatric population?
trauma (others: proliferative retinopathy, myopica, aphakia, ROP, lattice)
Coat’s Disease is a peripheral retinal ______________ with associated ______________
telangiectasia; exudation
Is Coat’s Disease unilateral or bilateral?
unilateral
What can Coat’s Disease lead to?
serous retinal detachment
How does toxocoriasis affect the retina?
It causes retinal granuloma associated with inflammation
Toxocoriasis is usually unilateral/ bilateral?
unilateral
What do myelinated nerve fibers look like?
unilateral, superficial, white retinal lesion with feathery borders
What type of refractive error will a patient with myelinated nerve fibers have if they also have decreased VAs?
High myopia
What type of visual field defect is seen in patients with myelinated nerve fibers?
scotoma
What conditions make up the MAC spectrum of ocular malformations?
microphthalmia, anophthalmia, coloboma
What is it called when the choroidal fissure fails to close?
coloboma
What direction do we typically see colobomas?
nasal
When do colobomas typically form?
between the 5th and 7th week of pregnancy
What symptom is associated with an iris coloboma?
light sensitivity
What symptom is associated with a macular or ON coloboma?
vision loss
What type of coloboma is associated with a visual field defect?
retinal coloboma
What conditions are associated with colobomas?
heterochromia, microphthalmia, cataracts, glaucoma, nystagmus, staphyloma
What genes are associated with colobomas?
PAX2, PAX6
What is CHARGE syndrome?
coloboma, heart anomaly, atresia of chonae, retardations, genital anomalies, and ear/ hearing abnormalities
What is it called when there is an additional chromosome 22?
Cat-Eye Syndrome
Goldenhard syndrome is also known as oculo-auriculo-vertebral syndrome and is associated with skin tags located where?
pre-auricular
What are the treatments for colobomas?
glasses, amblyopia treatment, CL or surgery for iris colobomas, retinal coloboma management (neo, RD, etc), low vision devices, genetic counseling
Which Retinal diseases present in infancy
retinopathy of prematurity, Leber’s Congenital Amaurosis, Congenital Stationary Night Blindness, Achromatopsia, foveal hypoplasia
What is growing in the retina of premature infants with ROP?
abnormal blood vessels
How are retinal blood vessels different in premature infants with ROP vs without ROP?
ROP: blood vessel growth stops after birth, so they do not extend to the edges of the retina
What is released to stimulate growth of blood vessels in areas of the retina that are avascular?
VEGF
In an eye with ROP…
What can happen if there is scarring in the retina?
retinal detachment and vision loss
What are risk factors for ROP?
low birthweight (under 1500 grams or 3 lbs is high risk); premature birth (32 weeks or earlier); supplemental oxygen or mechanical ventilation, severe illness at birth
Where are the 3 retinal zones for classification of ROP?
Zone 1: closest to the optic nerve and macula (worse prognosis)
Zone 2: mid-peripheral
Zone 3: far periphery on temporal side
There are 5 stages of ROP, what is a common vascular characteristic of stages 3, 4 and 5
Plus Disease: thickened and tortuous blood vessels
Which stages of ROP resolve without treatment?
1 and 2
Which stage of ROP typically requires treatment?
stage 4
start to consider treatment at stage 3
In stage 1, there is a distinct border between what two types of tissue in the retina?
vascularized and avascular
What forms in stage 2 of ROP?
elevated ridge with neovascularization of the ridge
In stage 3 of ROP, the fibrovascular tissue extends from the ridge into the _____________
vitreous
Stages 4 and 5 are characterized by what retinal complication?
retinal detachment
What type of retinal detachment occurs in stage 4 of ROP?
Partial (may or may not involve the macula)
What is the VA during stage 5 of ROP?
LP or NLP
What type of RD is there in stage 5 of ROP?
total RD
What treatment was found to prevent severe vision loss and RD in 50% of stage 3 ROP patients?
cryotherapy
What is the preferred treatment for ROP?
laser photocoagulation
What are complications of ROP?
poor BCVA, Myopia, strabismus, amblyopia, glaucoma, nystagmus, and cataracts
What is Leber’s Congenital Amaurosis?
severe visual impairment present at/ or within 2 month of birth
What type of refractive error is associated with Leber’s Congenital Amarousis
high hyperopia
The pupillary light response is brisk/poor in Leber’s Congenital Amarousis
poor
How does a Leber’s fundus change from birth through adolescence?
- birth: normal;
- after birth: white flecks, pigment clumping, macular pigment dysplasia;
- by adolescence: pigmentary retinopathy, vessel attenuation, optic atrophy
Looks like Retinitis pigmentosa
Vision loss with congenital stationary night blindness is variable, but usually not worse than ________
20/200
Which inheritance pattern shows symptoms later in congenital stationary night blindness?
AD (presents later with night blindness and normal VA)
foveal hypoplasia may be an isolated finding or associated with which other conditions?
albanism and aniridia
What are the ocular findings associated with foveal hypoplasia?
reduced vision, nystagmus, poorly developed macula/ fovea
Stargardt’s disease, Best disease, X-linked retinoschisis, cone dystrophy and Retinitis pigmentosa are all retinal diseases that show up in infancy/childhood/adulthood
childhood
Stargardt’s disease progresses ___________
slowly
presents between ages 8-14
What VA does Stargardt’s eventually progress to by age 30?
20/200
How does the macula appear early in Stargardt’s versus later in the disease?
- Early: normal fundus;
- later: loss of foveal light reflex, then round pigmented macular atrophy
differential: retinitis pigmentosa
The abnormal accumulation of lipfuscin in the RPE of a patient with Stargardt’s causes what to happen in the periphery of the retina?
yellowish/ white flecks
no loss of acuity unless the macula is involved
How does vision change when someone has Best Disease?
Best Disease: childhood retinal disease
Normal vision early followed by decreased central vision and metamorphopsia with normal peripheral vision
This yellow yolk-like macular lesion is found in which childhood retinal disease?
Best Disease
usually bilateral, but can occasionally be unilateral
25% of patients may present with multiple lesions outside the macula
Consider the EOG findings of a patient with Best Disease
During dark adaptation, the resting potential decreases slightly and during light adaptation, there is a substantial increase of resting potential. What is the effect on the Arden ratio?
Arden Ratio: light peak/ dark trough
Decreases
< 1.5; often 1.0-1.3
Normal:~>1.8 but decreases with age
What is the inheritance pattern for Best’s Disease?
Autosomal dominant
A higher stage number for Best Disease indicates milder/ more severe disease
more severe
Reduced VA’s start at which stage of Best Disease?
2a
Which stage of Best Disease is the pseudohypopyon phase?
stage 3
What is the VA associated with Stage 4c of Best disease?
20/200 or worse
4 Treatment options for Best Disease
- Laser Photocoagulation
- Anti-VEGF
- Low vision aids
- Genetic counseling
A spoke like appearance to the fovea is seen in which childhood retinal disease?
X-linked Retinoschisis
Also: peripheral retinoschisis (50%: usually inferior temporal) and vitreous hemorrhages, NFL breaks and retinal detachment associated
Salt and pepper, bone spicules, optic atrophy and vessel attenuation are all retinal signs of which childhood retinal disease?
Retinitis pigmentosa
looks like Leber’s
The SC form of Sickle Cell has more systemic/ ocular complications
ocular
What are 3 anterior segment findings associated with sickle cell?
“comma” shaped conjunctival sickling sign; iris atrophy, hyphema
Salmon patches and black sunburst spots are non-proliferative signs of sickle cell found in the anterior/posterior segment
posterior
Name 2 proliferative posterior segment associated with sickle cell disease
AV anastomoses (hair-pin loop); neovascularization (sea fan)
What age should we start screening children with the SC form of sickle cell for ocular findings
SC: more ocular findings
perform DFE annually; FA on abnormal eyes
beginning at age 9
Is Papilledema or pseudopapilledema more common in pediatrics?
pseudopapilledema
causes: hyperopia, optic nerve drusen; hyperplastic glial tissue
Derangements of mitochondrial metabolism causes the majority of what?
Optic neuropathies
What is the most common form of hereditary optic atrophy?
autosomal dominant optic atrophy
mutations in OPA1 and OPA3 gene
Vision loss occurs between 4-8 years old
Which form of optic atrophy is associated with nystagmus?
recessive optic atrophy
Is toxic/ nutritional optic neuropathy bilateral and asymmetric or symmetric?
symmetric
Why does radiation therapy cause optic neuropathy in children?
radiation therapy administered for retinoblastoma or craniopharyngioma tumors of childhood
difficult to shield optic nerves from the field of radiation
cumulative dose can increase risk of ON
ON can occur weeks to years after treatment
Atrophic discs are normal/ large/ small in size
normal
diminution of number of axons, with normal vessels and glial tissue
cuased by late gestational injury
Optic Nerve Hypoplasia has a normal/ smaller/ larger optic disc than expected
smaller
caused by early gestational injury
presents bilaterally
What is pathognomonic for ONH?
Double ring sign: hypo/hyperpigmented area surrounding the disc
may also present with pendular nystagmus
How can yoked prism help a child with nystagmus?
May be able to move eyes to null point: dampen abolish nystagmus and have best VA
Which type of nystagmus has the following characteristics?
* reversed OKN
* absence of oscillopsia
* Null point
* reduced VA’s before 24 months
* nystagmus less evident with age
Idiopathic infantile nystagmus
A frosted occluder or high plus lens is helpful when refracting for which type of nystagmus?
latent
What are the 5 A’s?
common conditions associated with sensory nystagmus
_s_ensory nystagmus is _s_econdary
1.** A**niridia
2. Achromatopsia
3. Albinism
4. Optic Nerve Atrophy
5. Leber’s Amaurosis
sensory nystagmus is ALWAYS associated with another ocular condition
What is the triad for spasmus nutans?
- nystagmus
- head torticollis
- head nodding
onset: always after 6 months; between 1-3 years most common
spontaneously disappears by 5-12 years of age
What is the frequency and amplitude for spasmus nutans?
high frequency, small amplitude
worse in abducting eye
asymmetric, intermittent
What type of imaging needs to be ordered for all children with high frequency dissociated nystagmus?
MRI of anterior visual pathway
Is acquired nystagmus more common in children or adults?
Types: upbeat and downbeat; gaze-evoked; see-saw; periodic alternating; dissociated
adults
also associated with oscillopsia
What are the benefits of Botox for nystagmus?
reduces nystagmus; improves vision
When would BU prism be used for nystagmus?
When nystagmus dampens with convergence
Is ocular abinism more common in boys or girls?
Boys
x-lined inheritance
Which type of oculocutaneous albanism has a more reduced BCVA?
OCA1
no pigment; no active tyrosinase
VA: 20/200-20/400
OCA1b is more/less severe
less
pigment increases slightly throughout life
residual tyrosinase activity and some pigment
Which is the most common type of albanism?
OCA2
more pigment, better vision
fair skin, not as pale as OCA1
How does nystagmus associated with albanism change throughout life?
starts out pendular, followed by jerk type
any type is possible
