Pediatric Ocular Disease Flashcards
(121 cards)
1
Q
What is the most likely etiology of congenital cataracts
A
unknown (up to 80%)
2
Q
What are the 4 types of congenital cataracts
A
zonular, polar, nuclear, posterior lentoconus
3
Q
What are the signs/ symptoms of a congenital cataract?
A
opacity of lens at birth, leukocoria, nystagmus (one or both eyes), strabismus, No APD
4
Q
When would we want cataract extraction performed?
A
within days to weeks
5
Q
What are 2 potential complications to congenital cataracts
A
amblyopia, glaucoma
6
Q
According to the IATS study, what percent of children with congenital cataracts became glaucoma suspects or developed glaucoma?
A
33%
7
Q
According to IATS, how did the costs of Surgery with IOL implant compare with costs of CL?
A
CL are more than double
8
Q
Which type of retinoblastoma is curable?
A
Orbital disease
9
Q
If retinoblastoma is _______________, prognosis is dismal
A
intracranial
10
Q
What are the characteristics of PHPV?
A
often vascularized, can cause vascular traction, microphthalmos, shallow anterior chamber, cataract and persistent hyaloid artery
11
Q
PHPV is the failure of the ___________ ___________ to regress
A
primary vitreous
12
Q
What age is retinoblastoma usually diagnosed?
A
before age 2
13
Q
Retinoblastoma is usually bilateral/unilateral
A
unilateral (75%)
14
Q
What patients tend to have more advanced Retinoblastoma in the US?
A
hispanic, lower socionomic status
15
Q
Retinoblastoma grows under the retina towards _________
A
vitreous
16
Q
What are the 4 presenting signs of retinoblastoma?
A
leukocoria, strabismus, red painful eye with glaucoma, and poor vision
17
Q
A DFE done under anesthesia with scleral depression is useful when looking for which disease?
A
Retinoblastoma
18
Q
genetic causes of retinoblastoma is alteration in which gene?
A
RB1
18
Q
When retinoblastoma is found in older children and unilateral it is usually n___-____________
A
non-heritable
18
Q
all b___________ cases are presumed
A
heritable
19
Q
What type of retinoblastoma causes the most deaths due to Retinoblastoma?
A
trilateral retinoblastoma
20
Q
Decreased deaths and less eyes requiring enucleation due to retinoblastoma can be attributed to what
A
advances in treatment
21
Q
What are the intraocular treatments for retinoblastoma?
A
chemotherapy/ chemoreduction; radiation therapy; laser therapy; brachytherapy; cryotherapy; enucleation
22
Q
What are the extraocular treatments for retinoblastoma?
A
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
23
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
24
What are ocular findings of Stickler's Syndrome?
high myopia, retinal detachments, cataracts, vitreous degeneration, glaucoma, pigmentary changes in the retina
24
What is the most common cause of retinal detachment in the pediatric population?
trauma (others: proliferative retinopathy, myopica, aphakia, ROP, lattice)
25
Coat's Disease is a peripheral retinal ______________ with associated ______________
telangiectasia; exudation
26
Is Coat's Disease unilateral or bilateral?
unilateral
27
What can Coat's Disease lead to?
serous retinal detachment
28
How does toxocoriasis affect the retina?
It causes retinal granuloma associated with inflammation
29
Toxocoriasis is usually unilateral/ bilateral?
unilateral
30
What do myelinated nerve fibers look like?
unilateral, superficial, white retinal lesion with feathery borders
31
What type of refractive error will a patient with myelinated nerve fibers have if they also have decreased VAs?
High myopia
32
What type of visual field defect is seen in patients with myelinated nerve fibers?
scotoma
33
What conditions make up the MAC spectrum of ocular malformations?
microphthalmia, anophthalmia, coloboma
34
What is it called when the choroidal fissure fails to close?
coloboma
35
What direction do we typically see colobomas?
nasal
36
When do colobomas typically form?
between the 5th and 7th week of pregnancy
37
What symptom is associated with an iris coloboma?
light sensitivity
38
What symptom is associated with a macular or ON coloboma?
vision loss
39
What type of coloboma is associated with a visual field defect?
retinal coloboma
40
What conditions are associated with colobomas?
heterochromia, microphthalmia, cataracts, glaucoma, nystagmus, staphyloma
41
What genes are associated with colobomas?
PAX2, PAX6
42
What is CHARGE syndrome?
coloboma, heart anomaly, atresia of chonae, retardations, genital anomalies, and ear/ hearing abnormalities
43
What is it called when there is an additional chromosome 22?
Cat-Eye Syndrome
44
Goldenhard syndrome is also known as oculo-auriculo-vertebral syndrome and is associated with skin tags located where?
pre-auricular
45
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
46
Which Retinal diseases present in infancy
retinopathy of prematurity, Leber's Congenital Amaurosis, Congenital Stationary Night Blindness, Achromatopsia, foveal hypoplasia
47
What is growing in the retina of premature infants with ROP?
abnormal blood vessels
48
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
49
What is released to stimulate growth of blood vessels in areas of the retina that are avascular?
VEGF
50
# In an eye with ROP...
What can happen if there is scarring in the retina?
retinal detachment and vision loss
51
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
52
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
53
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
54
Which stages of ROP resolve without treatment?
1 and 2
55
Which stage of ROP typically requires treatment?
stage 4
| start to consider treatment at stage 3
56
In stage 1, there is a distinct border between what two types of tissue in the retina?
vascularized and avascular
57
What forms in stage 2 of ROP?
elevated ridge with neovascularization of the ridge
58
In stage 3 of ROP, the fibrovascular tissue extends from the ridge into the _____________
vitreous
59
Stages 4 and 5 are characterized by what retinal complication?
retinal detachment
60
What type of retinal detachment occurs in stage 4 of ROP?
Partial (may or may not involve the macula)
61
What is the VA during stage 5 of ROP?
LP or NLP
62
What type of RD is there in stage 5 of ROP?
total RD
63
What treatment was found to prevent severe vision loss and RD in 50% of stage 3 ROP patients?
cryotherapy
64
What is the preferred treatment for ROP?
laser photocoagulation
65
What are complications of ROP?
poor BCVA, Myopia, strabismus, amblyopia, glaucoma, nystagmus, and cataracts
66
What is Leber's Congenital Amaurosis?
severe visual impairment present at/ or within 2 month of birth
67
What type of refractive error is associated with Leber's Congenital Amarousis
high hyperopia
68
The pupillary light response is _brisk/poor_ in Leber's Congenital Amarousis
poor
69
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
70
Vision loss with congenital stationary night blindness is variable, but usually not worse than ________
20/200
71
Which inheritance pattern shows symptoms later in congenital stationary night blindness?
AD (presents later with night blindness and normal VA)
72
foveal hypoplasia may be an isolated finding or associated with which other conditions?
albanism and aniridia
73
What are the ocular findings associated with foveal hypoplasia?
reduced vision, nystagmus, poorly developed macula/ fovea
74
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
75
Stargardt's disease progresses ___________
slowly
| presents between ages 8-14
76
What VA does Stargardt's eventually progress to by age 30?
20/200
77
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
## Footnote
differential: retinitis pigmentosa
78
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
79
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
80
This yellow yolk-like macular lesion is found in which childhood retinal disease?
Best Disease
| usually bilateral, but can occasionally be unilateral
## Footnote
25% of patients may present with multiple lesions outside the macula
81
# 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
## Footnote
Normal:~>1.8 but decreases with age
81
What is the inheritance pattern for Best's Disease?
Autosomal dominant
82
A higher stage number for Best Disease indicates _milder/ more severe_ disease
more severe
83
Reduced VA's start at which stage of Best Disease?
2a
84
Which stage of Best Disease is the pseudohypopyon phase?
stage 3
85
What is the VA associated with Stage 4c of Best disease?
20/200 or worse
86
4 Treatment options for Best Disease
1. Laser Photocoagulation
2. Anti-VEGF
3. Low vision aids
4. Genetic counseling
87
A spoke like appearance to the fovea is seen in which childhood retinal disease?
X-linked Retinoschisis
## Footnote
Also: peripheral retinoschisis (50%: usually inferior temporal) and vitreous hemorrhages, NFL breaks and retinal detachment associated
88
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
89
The SC form of Sickle Cell has more _systemic/ ocular_ complications
ocular
90
What are 3 anterior segment findings associated with sickle cell?
"comma" shaped conjunctival sickling sign; iris atrophy, hyphema
91
Salmon patches and black sunburst spots are non-proliferative signs of sickle cell found in the _anterior/posterior_ segment
posterior
92
Name 2 proliferative posterior segment associated with sickle cell disease
AV anastomoses (hair-pin loop); neovascularization (sea fan)
93
What age should we start screening children with the SC form of sickle cell for ocular findings
| SC: more ocular findings
## Footnote
perform DFE annually; FA on abnormal eyes
beginning at age 9
94
Is Papilledema or pseudopapilledema more common in pediatrics?
pseudopapilledema
| causes: hyperopia, optic nerve drusen; hyperplastic glial tissue
95
Derangements of mitochondrial metabolism causes the majority of what?
Optic neuropathies
96
What is the most common form of hereditary optic atrophy?
autosomal dominant optic atrophy
| mutations in OPA1 and OPA3 gene
## Footnote
Vision loss occurs between 4-8 years old
97
Which form of optic atrophy is associated with nystagmus?
recessive optic atrophy
98
Is toxic/ nutritional optic neuropathy bilateral and asymmetric or symmetric?
symmetric
99
Why does radiation therapy cause optic neuropathy in children?
## Footnote
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
## Footnote
ON can occur weeks to years after treatment
100
Atrophic discs are _normal/ large/ small_ in size
normal
| diminution of number of axons, with normal vessels and glial tissue
## Footnote
cuased by late gestational injury
101
Optic Nerve Hypoplasia has a _normal/ smaller/ larger_ optic disc than expected
smaller
| caused by early gestational injury
## Footnote
presents bilaterally
102
What is pathognomonic for ONH?
Double ring sign: hypo/hyperpigmented area surrounding the disc
## Footnote
may also present with pendular nystagmus
103
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
104
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
105
A frosted occluder or high plus lens is helpful when refracting for which type of nystagmus?
latent
106
What are the 5 A's?
| common conditions associated with sensory nystagmus
## Footnote
_s_ensory nystagmus is _s_econdary
1.** A**niridia
2. **A**chromatopsia
3. **A**lbinism
4. Optic Nerve **A**trophy
5. Leber's **A**maurosis
| sensory nystagmus is ALWAYS associated with another ocular condition
107
What is the triad for spasmus nutans?
1. nystagmus
2. head torticollis
3. head nodding
| onset: always after 6 months; between 1-3 years most common
## Footnote
spontaneously disappears by 5-12 years of age
108
What is the frequency and amplitude for spasmus nutans?
high frequency, small amplitude
| worse in abducting eye
## Footnote
asymmetric, intermittent
109
What type of imaging needs to be ordered for all children with high frequency dissociated nystagmus?
MRI of anterior visual pathway
110
Is acquired nystagmus more common in children or adults?
## Footnote
Types: upbeat and downbeat; gaze-evoked; see-saw; periodic alternating; dissociated
adults
| also associated with oscillopsia
111
What are the benefits of Botox for nystagmus?
reduces nystagmus; improves vision
111
When would BU prism be used for nystagmus?
When nystagmus dampens with convergence
112
Is ocular abinism more common in boys or girls?
Boys
| x-lined inheritance
113
Which type of oculocutaneous albanism has a more reduced BCVA?
OCA1
| no pigment; no active tyrosinase
## Footnote
VA: 20/200-20/400
114
OCA1b is _more/less_ severe
less
| pigment increases slightly throughout life
## Footnote
residual tyrosinase activity and some pigment
115
Which is the most common type of albanism?
OCA2
| more pigment, better vision
## Footnote
fair skin, not as pale as OCA1
116
How does nystagmus associated with albanism change throughout life?
starts out pendular, followed by jerk type
| any type is possible
