Ophthalmic Anomalies in the Pediatric Patient Mark T. Dunbar, O.D., F.A.A.O.

Ophthalmic Anomalies in the
Pediatric Patient
Mark T. Dunbar, O.D., F.A.A.O.
Director of Optometric Services
Optometric Residency Supervisor
Bascom Palmer Eye Institute
University of Miami, Miller School of
Medicine
Miami, Florida
Does my child see?
Does my child see?
™ How
well does a
neonate/infant
see?
™ How do we
determine vision
in an infant or
neonate?
Visual Acuity
™ Relatively
poor in the 1st months to yrs
of life
™ Adult acuity not attained until 1-11/2
yrs
™ Well below the standard for legal
blindness
Development
™ Turn
over by 2-3 months
™ Sit-up by 5-6 months
™ Reach for an object by 4 months
™ Play with objects in hand by 6 months
™ How well does the baby respond to
other stimuli (touch, sound)?
™ Is the baby floppy or hypotonic?
Birth History
™ Birth
Weight
™ Full-term vs Premature
™ What kind of delivery
™ Complications
¾ During
pregnancy
¾ During delivery
™ Hypoxia
™ Bleeding
Family History
™ Night
blindness
™ Color vision
™ High myopia
™ Nystagmus
™ Cataracts
™ CNS disorders
Visual Acuity
Does the baby
fixate while eating?
™ Do the eyes follow
the parent’s face?
™ Does the baby
respond to light?
™ Does the baby
reach for objects
™
Good Vision
Parents will tell
you the baby sees
well
™ Will smile at a face
™ Will follow the fact
of a parent
™ Will fixate while
eating
™
Bad Vision
Parents unsure if
baby sees
™ Stares at bright
light
™ Nystagmus
™ Hand waving
™ Eye poking
™ Disinterested in the
environment
™ Failure to smile
™
Visual Acuity
Fixate and Follow
™ Central Steady and
Maintained (CSM)
™ OKN (Optokinetic
nystagmus)
™ Familiar figures
™
¾
Allen Figures
Fix and Follow
Fixate within days
of birth
™ Follow by 6 weeks
™ Babies loose target
after 5-10°
™
Pursuit movement
not well established
¾ Watch for microsaccadic eye
movements
¾
Teller Acuity Cards
Preferential Looking
Electrodiagnostic Testing
ERG
OKN
Answers the
question “Does
my child see?”
™ Motor response
used to assess a
sensory function
™ Check
monocularly and
vertical
™
Rotation of the Infant
“Response to spin”
™ Assesses
the vestibulo-ocular response
™ Tests the ability to generate a saccadic
eye movements
™ Slow drift of the eyes in the direction
of the spin
™ Fast phase, jerk nystagmus in the
opposite direction
Rotation of the Infant
™ Two
observations made:
¾ Does
the child develop a nystagmus in
response to vestibulo-oculi stimuli
¾ What is the time interval that the baby
dampens the nystagmus when swinging
stopped
Rotation of the Infant
™ Sighted
child will visually inhibit the
induced nystagmus in 3-5 seconds
™ Blind
child cannot visually inhibit the
nystagmus and it may continue for 1520 seconds
Alignment of EOM’s
Cover test
™ Hirshberg
™
¾
™
Normal 0.5 mm
nasal
Krinsky
¾
Neutralizing the
corneal light reflex
with prism
Pupils
™ Extremely
important – Never lie!
™ Dim illumination
™ Check size, direct and consensual
™ Check for “APD”
™ Paradoxical pupil
¾ Constriction
in dim illumination, dilation in
bright illumination
Nystagmus
™ Rhythmic
oscillation of the eyes
™ Sign of poor vision
¾ Until
™ Will
proven otherwise
mimic focal neurologic disease
Nystagmus
Afferent visual
pathway disease
™ Congenital (1:10)
™ Focal neurologic
disease (CNS
disorders)
™
Nystagmus
Cataracts
™ Corneal opacities
™ High Rx errors
™ Foveal hypoplasia
™ Albinism
™ Aniridia
™
Nystagmus
Bilateral macular scar
(Toxoplasmosis)
™ Leber’s
™ CSNB
™ ROP
™ ON Hypoplasia
™ Achromatopsia
™
Congenital Motor
Nystagmus
™ Benign
condition
™ Present at birth (or shortly after)
™ Pendular or jerk
™ Symmetric
™ Horizontal
™ Horizontal on up-gaze
™ Dampens on convergence
Congenital Motor
Nystagmus
™ Latent
component
™ Null point
™ Head turn
™ Near visual acuity usually better
Paradoxical Pupil
™ Pupil
constricts in darkness
™ Dilates in with bright light
™ Seen with:
¾ Leber’s
¾ CSNB
¾ ON
Hypoplasia
Neuro-Imaging Not
Necessary
™ Poor
vision
™ Acquired nystagmus
™ Sluggish pupil
™ Normal appearing fundus
™ Paradoxical pupil
Neuro-Imaging
Mandatory
™ Poor
vision
™ Acquired nystagmus
™ Brisk pupil response
™ Normal appearing fundus
™ No paradoxical pupil
Nystagmus
™ Good
case history
™ Characteristics
™ Variability
™ Symmetry
™ Null point
™ Head turn
™ Latent component
Nystagmus
™ Afferent
¾ 20/200
Visual Pathway Disease
Vision
¾ If you can superimpose an OKN overtop
of their nystagmus, visual prognosis is
excellent
 Children can be mainstreamed into
regular schools
5 Month Old
™ Suspected
blindness or poor vision
™ Nystagmus noted at 6 wks of age
™ Sluggish pupil
™ Cycloplegic retinoscopy + 5.00
™ No family Hx of nystagmus
™ Normal appearing fundus
Your Move
Work Up?
™ Only
observation?
™ Neuro-imaging?
™ Electrodiagnostic testing?
5 Month Old
Additional Information
™ Photophobia
™ ERG
performed
¾ Depressed
states
in both photopic and scotopic
Leber’s Congenital
Amaurosis
™ Rod
cone dystrophy
™ Present at birth or shortly after
™ 10-15% of kids in schools for the blind
™ Poor vision
™ Nystagmus or roving eye movements
™ Poor pupil response: Paradoxical pupil
™ Moderate Hyperopia
™ Autosomal recessive
Leber’s Congenital
Amaurosis
Fundus
™ May
appear normal
™ Attenuated vessels
™ 10% bilateral macular dystrophy
™ 10% peripheral RPE changes
™ Optic atrophy
™ Extinguished ERG
Diagnostic Criteria
Leber’s Congenital Amaurosis
™ Diagnosis
of exclusion
™ Visual dysfunction since birth
™ Abnormal ERG
™ Nystagmus or roving eye movement
™ Moderate – high hyperopia
Electrodiagnostics
When to do in children:
™ Nystagmus
or poor vision from birth
¾ Not
due to obvious afferent visual pathway
conditions
™ Overt,
but nondiagnostic macular lesion
™ Generalized retinal degeneration
present or suspected
™ Decreased VA of unknown cause
6 Month Old Female
™ No
fix or follow
™ No nystagmus
™ Brisk pupils – No afferent pupil defect
™ No paradoxical pupil
™ Absent OKN
™ Normal fundus exam
What are we missing?
6 Month Old Female
Case History
™
™
™
™
Full term pregnancy
Cardiac surgery at 4 months
Cardiac arrest
Cannot see upon awakening
Cortical Blindness
™ Loss
of vision stemming from injury
to the geniculostriate pathway
™ Hypoxic insult to the posterior
pathway, occlusion of the post
cerebral arteries
Cortical Blindness
™ Generalized
hypotension
™ Cardiac surgery
™ Birth aphyxia
™ Hypotensive crisis
™ Hydrocephalus
™ Metabolic derangements
Cortical Blindness
™ Positive
history
™ No visual response
™ No Nystagmus
™ Absent OKN
™ Intact pupil response
™ No paradoxical pupil
™ Normal fundus exam
Cortical Blindness
CNS Defects
™ Mental
retardation
™ Cerebral palsy
™ Seizure disorder
™ Hydrocephaly or microcephaly
Cortical Blindness
Radiologic findings
™ Diffuse
atrophy of the occipital cortex
™ Bi-occipital lobe infarction
™ Periventricular leukomalacia
™ Parieto-occipital “watershed”
infarction
Cortical Blindness
™ Prognosis
™ Transient
or permanent
™ Complete restoration of VA rare
™ 50% may show significant improvement
™ Recovery is slow – months to years
NLP -> LP -> Color -> Form perception->
™ All
will recover some vision
™ No tests accurate in prediction recovery
Cortical Blindness
Work-up
™ MRI
™ CT
™ ERG
™ Pediatric
neurological work-up
The Wet Watery Eye
Nasal lacrimal duct
obstruction
(NLDO)
™ Viral conjunctivitis
™ Herpetic keratitis
™ Congenital
developmental
anomalies
™
The Wet Watery Eye
Discharge
™ Injection or redness
™ Swelling
™ Corneal involvement
™ Does the eye feel hot
™ Systemic involvement
™
Nasal Lacrimal Duct
Obstruction (NLDO)
™ Blockage
at the lower end of the nasal
lacrimal duct
™ 6% of babies
™ Failure of canalization of the epithelial
cells
¾ At
the valve of Hasner
™ Chronic
epiphora, mucopurulent
discharge
NLDO
™ 80%
spontaneously open by 6 months
™ Probing after 6 months
™ Advise parents to massage lacrimal sac
¾ Massage
up to express mucous, then down
to increase hydrostatic pressure
™ May
need antibiotic for 2° infection
¾ Zymar,
Polytrim
Blepharoconjunctivitis in
Children
Lorena 8 ½ yo Female
3 yr history of chronic “blepharitis”
™ Last Dr rxed Bacitracin, Polytrim X 3 wks
™ Had been on Cefaclor, Max ung, Ocuflox
™ Medical Hx unremarkable, twin
™
¾
Sister did not have the same eye sx
VA: 20/15 OU
™ Ant Seg: L > R
™
¾
Mild PEE RE and SEI RE – Photos LE
Rosacea: “Acne Rosacea”
™A
chronic acneiform skin disorder
affecting cheeks, chin, nose, forhead,
and eye
™ Etiology: Poorly understood
Dermatologic Findings
‹ Axial
facial
erythema/hypere
mia
‹ Telangiectasis
‹ Papules
‹ Pustules
‹ Sebaceous gland
hypertrophy
‹ Rhinophyma
Ocular Rosacea Findings
™
Meibomian gland Dz
¾
™
™
Recurrent chalazia
Chronic blepharitis
¾
¾
™
™
Foamy tears
Staph blepharoconjunctivitis
Lid margin telangiectasia
Papillae, follicules
Hyperemia
Ocular Rosacea Findings
Corneal
vascularization
™ Sterile corneal
infiltrates
™ Corneal ulceration
™ Corneal perforation
™ Episcleritis
™ Scleritis
™ Iritis
™
Rosacea Keratitis
Represents more significant clinical
problem
™ Cutaneous rosacea:
™
¾
™
5-30% corneal involvement
Ocular rosacea:
¾
75-85% corneal involvement
Inferior cornea usual site
™ Characteristic “spade-shaped” infiltrates
™
Ocular Rosacea in
Children
Erzurum SA, Feder RS, Greenwald MJ
Arch of Ophthal 1993
¾ 3 Cases of Rosacea keratitis between 1012 yo
¾ Characteristic dermatologic findings
¾ All had ocular Sx > 6 mo duration
¾ 2 bilateral, 1 unilateral
¾ Tx oral TCN and/or Doxycycline
Ocular Rosacea in
Children
Rybojad BE, Deplus S, Morel P. Ann
Dermatol Venereol 1996
™ 10 yo girl with red painful eye X 6mo
¾ Dxed
with episcleritis
™ Erythematous
papular and pustular
eruption mid face X 1 mo
™ Txed with oral antibiotics and
erythromycin
Evaluation and treatment of
children with ocular rosacea
Cornea. 2007 Jan;26(1):42-6.
Donaldson KE, Karp CL, Dunbar, MT
Patient Characteristics
N = 20
Bilaterality
Mean age of onset
Mean age of diagnosis
Mean time to diagnosis
Gender
Skin changes
Decreased vision
Family History
Mean length of follow-up
74% (usually asymmetric)
6.3 yrs (range: 6 mos-17 yr)
9.2 years
2.6 years
70% female/ 30% male
40%
30%
10% (not elicited)
19.6 months (0-4 years)
Symptoms
Redness - 65%
™ Chronic chalazia – 40%
™ Pain/irritation/burning – 39%
™ Secretions – 28%
™ Photophobia – 22%
™ Tearing – 17%
™ Itching – 11%
™ Blurry vision – 5%
™ Constant eye rubbing – 5%
™ No complaints - 5%
™
Clinical Features
FEATURE
MGD/Blepharitis
Corneal Pathology
™
PEE
™
Neovasc/Pannus/Scarring
Conjunctival Hyperemia
Chalazia
INCIDENCE
95%
90%
70%
80%
85%
40%
Rosacea in Children
™
Submitted to AJO – Rejected
¾
They didn’t believe Rosacea in
children really exists
Archives of Ophthal. December 2005; 123:1667-1670
Wills Eye Hospital
Blepharokeratoconjunctivitis in Children
™ 29 Cases (16 girls, 13 boys)
™ Mean age was 6 ½ y/o (range 2-12)
Blepharokeratoconjunctivitis in
Children
™ Underdiagnosed
chronic
inflammatory disorder observed in
children
™ Represents a spectrum of clinical
manifestations, ranging from:
¾ Chronic
eyelid inflammation
¾ Recurrent chalazia
¾ Conjunctival and corneal phylctenules
¾ Neovascularization and scarring
Literature Ambiguous
™ No
definitive etiology in the literature
™ Many terms have been given
including:
or staphylococcal
phlyctenular disease
¾ Childhood acne rosacea
¾ Blepharokeratitis
¾ Chronic blepharokeratoconjunctivitis,
¾ Nontuberculous
Clinical Findings
Hammersmith, K. M. et al. Arch Ophthalmol 2005;123:1667-1670
™
Bilateral in 28/29 (97%)
¾
Significantly asymmetric in 6/29 (21%)
Ambylopia attributed to BKC in 2/29 (7%)
™ 100% had eyelid inflammation
™ 16/29 (55%) had superficial punctate
keratitis
™ 15/29 (52%) corneal vascularization
™ Corneal infiltration 8/29 (28%)
™ 4 patients (14%) had classic phlyctenules
™ Corneal scarring was seen in 11/29 (38%)
™
Treatment
At the Time of Diagnosis:
™ 11/29 (38%) topical 1% prednisone or
0.1% dexamethasone at the time of Dx
™ 4/29 (14%) were taking oral
erythromycin
Hammersmith, K. M. et al. Arch Ophthalmol 2005;123:1667-1670
Treatment
Warm compresses were prescribed to all
patients
™ Topical antibiotic ointment was prescribed
to 27 (97%) of 29 patients
™ Oral therapy, in the form of erythromycin
(n = 21) and doxycycline (n = 1), was
prescribed to 22 (76%) of 29 patients.
™ Length of oral therapy ranged from 1 to
14 months
™
Hammersmith, K. M. et al. Arch Ophthalmol 2005;123:1667-1670
Treatment
A Stepwise Approach
™ Step
1 – Lid Hygiene
™ Step 2 – Topical Medications
¾ Low-dose
steroids (FML, Blephamide, PF,
MP)
¾ Antibiotic ointment (Erythromycin)
™ Step
3 – Systemic antibiotics
¾ Erythromycin
¾ Doxycycline
Treatment
 Lid
Hygiene (AT, LS, HC)
 Erythromycin or bacitracin ung
lids hs
 Topical Corticosteroids
 Tetracycline, 250 mg. QID PO
 Doxycycline, 50-100 mg. BID PO
 Erythromycin, 250 mg. QID PO
 Topical metroniadazole
Pablo
™ 24
yo Hispanic Male
™ Wants contact lenses -> has always
been nearsighted
™ Has never had good vision
™ VA: 20/80 RE; 20/30 LE
™ RE: -17.00 -3.00 X 175
™ LE: - 15.00 -1.00 X 180
Retinopathy of
Prematurity (ROP)
™
Vasoproliferative
retinopathy that
occurs principally,
but not exclusively,
in premature infants
™
Largest cause of
blindness < 1 yr
age
Retinopathy of
Prematurity
Identified by Terry in 1942 and coined the
name “Retrolental Fibroplasia (RLF)
¾ Believed the pathologic process was
proliferation of embryonic hyaloid system
¾ 10 years became the largest cause of
childhood blindness
™ 1950’s the relationship b/w supplemental O2
became understood and resulted in rigid
curtailment O2 -> respiratory distress (RDS)
™
ROP
™ Late
60’s early 70’s arterial blood gas
analysis became standard resulted in
drastic decline in RDS
™ With the development of neonatology,
highest risk premature infants were
now surviving
™ Survival infants with BW < 1000 g
¾ 1950:
8% Survival
¾ Today: >72% Survival
% of Survival < 1500 g
™ 1960
-> 32%
™ 1971 -> 39%
™ 1982 -> 63%
™ 1992 -> 75%
™ 2003 -> 85%
Risk Factors for ROP
™ Prematurity
™ Low
birth weight
™ Complex hospital course
™ Prolonged supplemental O2
¾ Not
a significant factor since the 1970’s
¾ Due in part to arterial blood gas
monitoring
Time for ROP
Development
™
Critical Window for Development of ROP
¾
10 wk interval b/w -> 32-42 weeks
postconception
95% ROP develops by 2 wks postterm, or 42
weeks postmenstrual age
™ Screenings mandated for infants weighing
< 1500g or < 28 weeks gestational age
™
¾
Exam should be done 4-6 weeks from birth or
31-33 wks postconceptional age
ROP and Birth Weight
™ BW
> 1250 gms (2.75 lbs): odds are slim
™ BW < 1250 gms: 10%
™ BW < 1000 gms (2.2 lbs): 75% ROP
™ Approximately
500 new cases each year
in US of blindness from ROP
Classification of ROP
™ Not
done since 1950’s
™ Increased ROP -> increased survival
of low BW neonates
™ Treatment had reared its ugly head
Unifying Principle
The more posterior the disease process,
and the greater the circumference, the
worse the prognosis
International
Classification
Location
™ Extent
™
¾
™
Clock hours
Stage
ROP Classification
™ Stage
I:
™ Stage II:
™ Stage III:
Demarcation line
Ridge
¾ Retinal
fibrovascular proliferation
¾ Plus disease
™ Stage
IV:
¾ Macula-On
™ Stage
V:
Retinal Detachment
vs Macula-Off
Total funnel RD
Stage I: Demarcation Line
Stage II: Ridge
Stage III
™
Fibrovascular proliferation
Stage III Plus Disease
Stage IV
Macula-on vs Macula-off
Stage V
Total
RD
ROP Natural History
™ 90%
spontaneously regress
™ 10% progress to Stage III or worse
Regressed ROP
™ High
myopia (often unilateral)
™ Dragging of retinal vessels
™ Lattice degeneration
™ Peripheral retinal folds
™ Vitreoretinal interface changes
™ Retinal thinning
™ Retinal breaks
™ Retinal detachment
Treatment of ROP
™ Controversy
surrounding value of
Cryotherapy prompted the CRYOROP study 1985
™ Study stopped early as it proved the
value of Cryo in threshold disease
¾ 45.4%
vs. 26.9 % reduction in RD,
Retinal folds, abnormal retinal tissue
¾ Blindness reduced from 61.7% to 47.1%
Treatment of ROP
™<
Stage III threshold: monitor
carefully
™ Stage III threshold: Cryo vs laser
™ Stage IV:
¾ Macula
on: observation weekly/biweekly
¾ Macula off: SBP
¾ SBP
‹ Stage
46-70% success reattaching retina
V: SBP/PPV/PPL for open funnel or
bilateral RD’s
Treatment of ROP
Stage IV (Macular on and Macular off)
™ Chang/Yang Retrospective study of 23
eyes (18 infants) w/ Stage 4 A or B Tx
with SBP
¾ Segmental
¾ 11
¾
buckle used in 15 eyes
(79%) Achieved macular reattachment
Encircling buckle used in 9 eyes
¾4
(44%) Achieved macular reattachment
Ophthalmic Surg Lasers Sep-Oct 2000
Treatment of Stage V ROP
Anatomical and visual results of vitreoretinal surgery for stage 5
retinopathy of prematurity
Retina. 2006 Sep;26(7):729-35
601 infants with stage 5 ROP in at least one
eye 1977 and 2001 had surgery
™ 28% success, 5% partial success, 55% failure,
and 11% lost eye
™ Visual function of > LP was achieved in 74%
of the 183 eyes with data on visual acuity
™
¾
(8 of 183) achieved visual acuity better than 5/200
Surgical Results
Stage IV, Mild Stage V
™ 50-70%
of patients have attached
retina’s with some useful vision
Stage V
™ 40-50%
have some attached retina
™ 50% of attached retina have some
useful vision
Natural Course of ROP
™ 90%
spontaneous regression
™ 10% progress to Stage III or beyond
™ Excellent prognosis for Stage III
threshold
™ Good prognosis for Stage IV macula on
™ Very poor prognosis for Stage V
™ Approximately 500 new cases each year
in US of blindness from ROP
Pediatric Cataracts
When do you do a work-up?
™ In
clinically healthy children, an
extensive peroperative evaluation is
not necessary to establish the cause…
Congenital Cataract
Nonsurgical
management
VA may improve after
dilation
™ Cycloplegia
™ Amblyopia patching
therapy
™
¾
Patch good eye
Congenital Cataract
Surgical Management
™ Only
when visual function is jeopardized
™ Bilateral Cataracts: Critical time for
achieving binocular vision: 6-8 wks
™ Unilateral Cataracts: “Window of
opportunity:” birth to 6 wks
Bilateral Cataracts
™ Operated
¾ 60%
> 20/60; 27% < 20/200
™ Operated
¾1
by 8 weeks
after 8 weeks
in 7 achieve better than 20/200
¾ No patient with nystagmus had > 20/200
Surgical Management
Historical Perspective
™ Needling
™ Intracapsular
extraction
™ Discision/aspiration anterior approach
™ Lensectomy/vitrectomy
™ Capsulotomy/Anterior vitrectomy
™ IOL’s
Focal Points
AAO 1999
Pediatric Cataracts
When to use IOL’s?
™ As
late as 1991 IOL in children were
controversial for children < 2 yo
¾ Small
globe size
¾ Increased tissue reactivity
¾ Marked axial length changes
™ 1994
study of 234 pedi ophthalmol,
46% indicated implanting IOL’s in
children
Wilson et al (1994 J Cat Refract Surg)
IOL’s in Pediatric
Cataracts
Why the trend towards younger ages?
Better, smaller more flexible PMMA IOL’s
™ Proven biocompatibility > 40 yrs
™ Longer follow up in adults give more
confidence in “capsular fixation” of IOL’s
™ Advances in surgical technology -> smaller
wounds etc…
™ Better management of anterior/posterior
capsules at the time of surgery
™
IOL’s in Pediatric
Cataracts: Outcomes
Hutchinson et al (1998 J Cat Refract Surg)
™ Reported on IOL children < 2 yrs of age
¾ 22 eyes of 17 pts operated 12 d– 22 mo
¾ Axial length, complications, need for
further surgery
¾ Equal axial lengths
¾ Amblyopia developed in most eyes
¾ Kids
still too young to accurately access VA
IOL’s in Pediatric
Cataracts: Outcomes
Hutchinson et al (1998 J Cat Refract Surg)
™ Post op Rx error mean 1.5 D (-1.8 to 4.1)
¾ Shot
for hyperopia
™ No
difference rates in complications
™ Recommended under-correcting IOL
power to account for myopic shift
¾ Leave
™ Safe
kids hyperopic and anisometropic
alternative to Specs and CL’s
IOL’s in Pediatric
Cataracts: Outcomes
™ Peterseim/Wilson
July 2000
Ophthalmology
¾ Bilateral
CE/PCIOL 30 eyes (12 d to 13 yrs)
¾ 91% VA better than 20/40
IOL’s in Pediatric
Cataracts: Outcomes
Peterseim/Wilson July 2000 Ophthalmology
Bilateral CE/PCIOL 30 eyes (12 d to 13 yrs)
™ 91% VA better than 20/40
™
Age
# Pts 1st Pop F-up Last
<2
2-4
5-6
8
3
6
Refract mo
Refraction
Change/
Yr
+6.8 D 29
+3.2 D 26
+0.8 D 27
+0.8 D
+1.8 D
-0.8
-2.5 D/yr
-0.8 D/yr
-0.7 D/yr
Refractive Changes
Following CE/IOL
Crouch et al. J AAPOS, Oct 2002
™ 52
eyes of 42 pts developmental cats
™ Ages 12 months – 18 years
™ 85% 20/40 or better
¾ 95%
™ 10
VA > 20/30
eyes had surgery @ 12 mo to 2 yrs
¾ -5.96
D myopic shift
Refractive Changes
Following CE/IOL
Crouch et al. J AAPOS, Oct 2002
Age
# Eyes
1-2
10
F-Up
(yrs)
6.35
Change
Δ/Yr
-5.96
-0.93 D
3-4
7
4.42
-3.66
-0.82 D
5-6
11
6.12
-3.40
-0.55
7-8
8
4.38
-2.03
-0.46
(dioptors)
IOL’s in Pediatric
Cataracts: Outcomes
™ Study
of 68 infants IOL’s implanted 118 months of life
™ Follow up 7 yrs
™ VA average 20/40 (20/20 to 20/1200)
¾ Despite
3.5 mm axial growth
Focal Points 1999 AAO
™ Becoming
IOL’s in Pediatric
Cataracts
“Standard” for > 2 yrs old
¾ Warranted
unilateral cataract > 1 year old
™ Still
controversial for < 2 and much
more controversial for < 1 yo
¾ Change
in globe size
¾ Greater post op inflammation
¾ Refractive changes
¾ Unpredictability of post op refractive error
makes IOL calculations difficult/unreliable
IOL’s in Pediatric
Cataracts
General Considerations
™ What
IOL power to shot for?
¾ Emmetropia?
Get more myopia later
¾ Less
problems with Amblyopia now and
easier to manage
¾ Myopia later is easier to deal with
¾ Hyperopia
¾ Problems
– expect shift toward myopia
of amblyopia, anisometropia
¾ Most surgeons aim 1-3 D hyperopia
What To Do With the
Post Capsule?
Leave it or take?
™ Leave
it in?
¾ High
incidence of post operative
capsular opacification -> amblyopia
™ Take
it out?
¾ Primary
posterior capsulotomy
(posterior capsulorhexis) or a central
capsulotomy
 Dictates where to put the IOL
IOL’s in Infants: When to Use?
12 d
Old,
1 day
Post op
Focal
Points
AAO
1999
Silsoft Contact Lens
™ +20
to + 32 D in 3 D steps
™ +12 to +20 in 1D steps
™ Birth to 6 mo: overplus by 3-4 D
™ 6 mo to 2 yrs: overplus by 1-2 D
™ > 2 yo: Plano to 1D
Retinoblastoma
™ Most
common intraocular malignancy
in childhood
™ 90% diagnosed before 3 yo
™ 94% sporadic cases, 6% family history
™ 40% of all new pts have inheritable
mutation
™ All bilateral RB’s have inheritable form
™ Autosomal dominant (80%) penetrance
Retinoblastoma
Leukocoria (61%)
™ Normal globe size
™ White, gray tumor
™ Chalky
calcification
™ Necrosis
™ Retinal detachment
™
Retinoblastoma
™ Multiple
or solitary tumor(s)
¾ Exophytic
vs endophytic
™ Total
exudative retinal detachment
™ Invade choroid, optic nerve -> subarachnoid space -> brain
™ 1% spontaneous regression
¾ Phthisis
bulbi
Amber
™7
mo old with leukocoria in both eyes
and strabismus for 6 weeks
™ Referred for evaluation of leukocoria
™ FHX: unremarkable
Amber
™ Bilateral,
¾ RE
non-familial retinoblastoma
Stage IV, LE Stage Vb
™ Treatment
¾ External
options
beam radiotheraphy
¾ Systemic chemotherapy with focal
ablation
¾ Enucleation
Amber
™ External
beam radiotherapy
¾ 180
cGy single daily fractions
¾ Anterior –lateral opposed wedge pair
planning
¾ Total treatment dose: 4500 cGy
™ Focal
laser hyperthermia/ablation
¾ Argon
Green Laser Indirect
Genetics and Molecular
Pathophysiology
™ Normal
cell division (regulation of cell
growth and proliferation):
¾ depends
on a balance of activating and
inhibiting growth regulators
Genetics and Molecular
Pathophysiology
Cancer results from an irreversible
imbalance of these factors tilted
towards uncontrolled cell growth and
proliferation
Genetics and Molecular
Pathophysiology
™ Rb
gene (RB1) located on the long arm
of chromosome 13 (at region 13q14)
¾ It
codes for Rb nucleoprotein (tumor
suppressor protein) which normally
suppresses cell division
 Protein also functions to inhibit cancer
 Not only in the eye, but throughout the
body
Genetics and Molecular
Pathophysiology
™ Rb
occurs when both copies of the Rb
gene are mutationally inactivated
¾ Both
maternal and paternal alleles of the
RB gene are lost
¾ So that RB protein is deficient
Knudson’s “Two-hit”
Hypothesis
™1
functional copy of Rb1 gene is
required for normal embryogenesis
™ 2 normal genes provides double
protection
™ 1 abnormal gene renders the cell
susceptible to development of Rb
Knudson’s “Two-hit”
Hypothesis
™ Hereditary
¾ One
(Germline) Rb
Rb mutation is already present and
therefore needs only one subsequent
mutation
Knudson’s “Two-hit”
Hypothesis
The “2nd hit” inactivates the other copy
™ Unlike the 1st mutation, the 2nd hit occurs
at a higher frequency and is more sensitive
to environment factors
™
¾
™
Such as exposure to ionizing radiation
 Increases the risk of tumorigenesis
It occurs frequently enough during retinal
development that multiple tumors occur

Also tumors thought out the body
Retinoblastoma (Rb)
™ Nonhereditary
(Somatic): 60-70%
¾ Rb1
gene occurs in a single retinal cell
¾ Unilateral
¾ No increased risk for cancers elsewhere
™ Hereditary
¾ Due
(Germline) 30-40%
to sporadic germline mutations
¾ Autosomal dominant
Retinoblastoma
Hereditary (Germline) 30-40%
¾ This
type of mutation results in every cell
in the body having only 1 normal
chromosome (and 1 abnormal)
™ High
risk of multiple bilateral tumors
™ Lifelong predisposition to cancers
throughout the body
Retinoblastoma
2nd Malignant Neoplasms
™ External
beam radiotherapy is
associated with ↑ incidence of 2nd
malignancy in the irradiated field
(dose related)
™ 35% of pts die by 40 yrs of age of 2nd
malignancy
¾ Incidence
is greater if radiotherapy done
before 12 months of age
Retinoblastoma
nd
2 Malignant Neoplasms
If no external beam radiotherapy has
been administered…..by age 40 yo
¾ 5%
of patients (with Germline mutations)
develop second malignant neoplasms
 Osteosarcomas of skull and long bones
 Cutaneous melanoma
 Soft tissue sarcomas
 Slight ↑ incidence of breast Ca and
Hodgkin’s disease
Retinoblastoma Treatment
™ Enucleation
™ External
beam radiation
™ Plaque brachytherapy (radiotherapy)
™ Chemoreduction
™ Chemothermotherapy
™ Combination
™ Cryo, Laser
Rb Treatment
Enucleation
™ Unilateral
RB > ½ Retina
™ Advanced disease with bilateral RB
™ Advanced disease with no hope of
useful vision
™ Eyes unresponsive to all forms of Tx
RB Treatment
Plaque Radiation
™ Small
tumors
™ Unilateral RB < ½ retina
™ Bilateral RB
™ May use combination of other chemotherapeutic agents
Chemothermotherapy
™ Involves
IV carboplatin
™ Followed by transpupillary
thermotherapy (TTT)
™ Combined effect of chemotherapy and
heat treatment causes tumor
destruction
Chemoreduction
™ Combination
of carboplatin,
vincristine, and etoposide
™ Given in hopes of either controlling
tumor(s) or reducing size so more
conservative Tx method can be used
™ Very large tumors with RD have
shown a dramatic initial response
Genetics
™ One
affected child: 6% risk
™ Two or more children: 50% chance
™ RB survivor with hereditary form: 50%
™ Linked to small arm of chromosome 13
Retinoblastoma Prognosis
™ Overall
5 yr survival rate: > 92%
™ Poor prognosis
¾ Optic
nerve involvement
¾ Massive choroidal invasion
¾ Orbital invasion
™ Survival
for metastatic RB: < 6 mo
™ VA 20/200 85% when macular or ON
not involved
Trilateral Retinoblastoma
™ Primitive
neural ectodermal tumor
(PNET)
™ Develops in 3% of germline mutations
™ Located in the pineal gland
¾ May
also arise in the parasellar region
™ Histological
characteristics similar to
retinoblastoma
Systemic Work Up
™ CT
scan (follow up MRI) r/o PNET
™ LP if ON involvement
™ Bone marrow aspiration if choroidal
or orbital involvement
Persistent Fetal
Vasculature (PFV)
™ “Persistent
Hyperplastic Primary
Vitreous” (PHPV)
™ Failure of the primary vitreous to
regress
™ Plaque of fibrous tissue adherent to
the posterior lens
™ Variable degrees of vascularization
™ Anterior, posterior, both
PFV: Anterior
™ Unilateral
™ Leukocoria
™ Microphthalmia
™ Shallow
anterior chamber
™ Vascularization of the retrolental
membrane
™ Drawn in ciliary processes
™ Clear lens
PFV: Posterior
™ May
have all or none of the anterior
features
¾ May
™ Fold
be isolate to posterior pole only
of condensed vitreous and retina
running from the disc to ora serrata
™ Retinal detachment
PFV Management
™ Goal:
avoid complications of
glaucoma and phthisis
™ Enucleation should be avoided
™ Lensectomy/Vitrectomy
™ Management of amblyopia
Thank You!
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