4/27/2018
Kristi A. Jensen OD, FCOVD
 Recall the physical
characteristics and ocular
findings associated with
Down Syndrome
 Describe Cerebral Palsy and
what causes it
 Identify the types of
Cerebral Palsy
 Describe characteristics of
Fragile X Syndrome
May 1, 2018
 Recall the characteristics
associated with autism
 Identify what ocular findings
are associated with autism
 Understand how Sensory
Processing disorder can
manifest
 Be familiar with objective
testing used to gather data in
patients with special needs,
how you perform these tests
and how you interpret the
information
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Down Syndrome
Cerebral Palsy
Fragile X
Cortical/Cerebral Visual Impairment
Autism Spectrum Disorders
Fetal Alcohol Syndrome
Sensory Integration Disorder
Examination Techniques for Special
Populations

 Currently there are more than 7 million people with

developmental disabilities in the United States
◦ 1 in 6 children in the US (2006-2008), 15%
◦ Males have twice the prevalence as females
◦ Children insured by Medicaid had a two-fold higher
prevalence
 This population has a higher incidence of learning
related vision anomalies than the general population

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Defined
Prevalence/Incidence
Physical Characteristics
Systemic Characteristics
Visual Characteristics

 Multisystem disorder that can affect all physical, systemic,

cognitive, emotion and oculo-visual aspects of the individual
◦ Genetic etiology: 94% have trisomy 21; 5% is translocation where the
long arm of the additional chromosome attaches to the 14th, 21st or
22nd chromosome; 1% is mosaicism when not all of the cells show the
defect
 Most commonly encountered chromosomal disorder in
humans
 Can be diagnosed with prenatal screening procedures:
◦ Low Alpha-fetoprotein of the mother
◦ Amniocentesis
◦ Chorionic villus sampling
◦ Human chorionic gonadotropin
◦ Percutaneous Umbilical Blood Sampling

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 Incidence of 1:700 live births

◦ As low as 1 in 12 for older mothers (>49 years of age)
 400,000 people diagnosed in the United States
 5,000 plus births per year
 Risk of having a second child with Trisomy 21 or
mosaicism is 1:100

 Children with Down Syndrome tend to resemble each

other more than their own family members
 Short stature, stubby hands/feet
 Brachycephalic skull
 Flat occiput
 Low set/small ears
 Flat nasal bridge
 Protruding tongue
 Dental Anomalies
 Dry skin

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 Cardiac Anomalies
◦ Associated with myopia and nystagmus
 Skeletal anomalies
 Gastrointestinal tract disorders
 Immune system conditions
 Dental disease
 Seizures
 Sleep conditions
 Hearing impairment
 Thyroid conditions
 Weight gain
 Impaired reflexes
 IQ decreases with age
 Difficulty with memory

 Oblique Palpebral Fissures

 Broad Epicanthal folds
 Keratoconus
 Brushfield’s spots
 Iris hypoplasia
 Cataracts
◦ Snowflake
◦ Early development of age related cataracts
 Optic disc hyperemia
 Increase in blood vessels of fundus
 Contrast Sensitivity Anomalies
 Visual Perceptual Dysfunctions

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 Strabismus
◦ Usually non-refractive
◦ Typically esotropia of 20-30 prism diopters
 Amblyopia
 Refractive Error
◦ Hyperopia > Myopia
 If myopic, tend to be highly myopic
◦ Do not go through normal emmetropization
 Accommodative disorders
 Blepharitis
 Keratoconus
◦ Secondary to mechanical rubbing(blepharitis) and decreased CCT and corneal rigidity
 Cataract
 Nystagmus
 Ptosis

Defined
Prevalence/Incidence
Physical Characteristics
Systemic Characteristics
Visual Characteristics

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 1860-William Little documented the first medical

description of the childhood disorder
◦ Occurred during the early years of life

◦ Patient presented with stiff spastic muscles in the limbs

◦ Non-progressive

◦ “Little’s Disease” now known as spastic diplegia

◦ Suggested etiology was lack of oxygen during birth

 Non-progressive disorder of movement and posture

caused by a lesion in the immature brain
 Abnormal muscle tone is the hallmark sign
◦ During the neonatal period, muscles will be hypotonic (floppy
baby syndrome), then 6-9 months later, hypertonicity will
follow as antagonist muscles co-contract
 Delayed motor milestones but seldom is there
regression of motor function
 Rarely inherited
 90% develop this condition because of some type of
traumatic event prior to, at, or just after birth
◦ CP is “acquired”

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 Spastic: 70-80%, hypertonicity is the hallmark sign, accompanied

by muscle stiffness, co-contraction and irritability(periventricular
white matter damage)
◦ Diplegia: legs are more affected than arms
 Common in preterm infants
◦ Hemiplegia: one half of body is more affected than the other
◦ Quadriplegia: whole body is affected
 Athetoid: 10-15%, slow writhing movements along with involuntary
movements that interfere with normal motor function; gaze
anomalies, drooling, abnormal gait(basal ganglia damage)
 Ataxic: hypotonicity is the hallmark sign, accompanied by problems
with equilibrium, motion awareness, sense of direction and fine
motor ability(cerebellar damage)
 “Mixed”

 500,000 individuals in the US have Cerebral Palsy (CP);

most common motor disability
 2 to 4 per 1000 live births result in an individual having CP
with little variation in developing countries
 1 in 323 children in the United States
 10% of cases are acquired, secondary to trauma
 40% of individuals reach the age of 40 years, many live up
to 70 years of age

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 Baby younger than 6 months

◦ Head lags when he is picked up
◦ Feels stiff
◦ Feels floppy
◦ Legs get stiff when he is picked up
 Baby older than 6 months
◦ Doesn’t roll in either direction
◦ Cannot bring hands together, or difficulty bringing hands to
mouth
◦ Reaches with one hand while keeping the other fisted
 After 10 months
◦ Crawls lopsided while dragging opposite hand or leg
◦ Scoots but does not crawl on all fours

 Premature birth increases risk by five times(before 32 weeks)

 Intrauterine ischemic event(prior to or at birth)
 Teratogens introduced by the mother including alcohol,
heroin/methadone, cocaine and smoking
 Infections such as cytomegalovirus, rubella, toxoplasmosis
 Low birth weight can increase risk by a factor of 20
 Maternal medical conditions(thyroid, ID or seizures)
 Multiple births
 Perinatal asphyxia
 Hydrocephalus
 Neonatal meningitis
 Car accident
 Child Abuse

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 Delayed motor development

◦ Contractures, increased muscle tone, retention of primitive
reflexes, positive deep tendon reflexes, oromotor anomalies,
seizures, growth delays
 Balance anomalies
 50% or more have average to above average
intelligence, but can range from profound intellectual
disability to superior intelligence
 Emotional, behavioral and psychological anomalies
including depression, self-injurious behavior and other
forms of mental illness

 Refractive error: Hyperopia > Myopia (3:1), Astigmatism

 Oculomotor dysfunctions of pursuits and saccades
 Nystagmus
 Gaze limitations or paresis
 Accommodative dysfunctions
 Amblyopia
 Strabismus: Esotropia = Exotropia
 Ocular Health Conditions
◦ Optic atrophy, visual field defects, cataracts, ROP, microphthalmos, corneal
anomalies, cortical blindness
 Visual-perceptual disorders
◦ Bilateral integration, laterality/directionality, visual-motor skills, visual
discrimination, visual closure, visual form constancy, visual figure ground,
spatial relationships, visual memory and fine motor skills

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 Positioning
 No sudden movement
 No loud, unexpected noises
 Speak smoothly and softly
 SMILE

Defined
Causes
Visual Characteristics

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 Leading cause of pediatric visual impairment in

developed countries
 Originally called “cortical” visual impairment due to
abnormal striate (occipital) images on CT scans
◦ Now have highlighted extrastriate cortical and subcortical
structures as being effected
 Vision Impairment due to brain damage
 Denotes a significant deficit in visual acuity, with
possible visual field loss, and other impaired visual
behaviors that cannot be explained by ocular, ocular
motor or refractive anomalies.

 Hypoxic ischemia in preterm or term brain

◦ Encephalopathy of Prematurity
 White matter loss, or PVL, and germinal matrix hemorrhage
 Brain malformations
 Focal Brain lesions(ex. Stroke)
 Neonatal hypoglycemia
 Metabolic disorders
 Chromosomal disorders
 Traumatic Brain Injury
 Intractable Epilepsy

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 Deficit in Visual Acuity

 High Refractive Error
 Possible Visual Field Loss
◦ Typically Inferior
 Abnormal VEP
 Impaired Visual Behavior
◦ Poor social gaze
◦ Light gazing or avoiding of lights
◦ Visual attention better for moving versus static targets
◦ Visual attention better for familiar versus novel targets
◦ Better visual response for simple versus complex displays
◦ Difficulty integrating gaze with reach, or looking with listening
◦ Delayed response to visual stimulation
 Variability in functional visual skills

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 Optic Nerve Head MAY indicate preterm gestational

age of brain damage
◦ Small optic nerves secondary to retrograde transsynaptic
degeneration may occur between gestational age of 24-34
weeks
◦ Large optic disc cup with normal optic nerve size may be more
associated with damage from 28-34 weeks

 If impacted dorsal stream to parietal cortex:

◦ Impacts “where” system
◦ Could impact connections to frontal cortex ultimately
impacting visual guidance of movement
◦ Inability to see objects in complex
environments(simultanagnosia)
◦ Inability to direct gaze to objects
◦ Impaired visual guidance of limbs(optic ataxia)
 If impacted ventral Stream to temporal cortex:
◦ Impacts “what” system(visual recognition and visual library)
◦ Difficulty processing faces(prosopagnosia), colors, shapes,
symbols, routes(topographic disorientation)

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Defined
Prevalence/Incidence
Physical Characteristics
Systemic Characteristics
Visual Characteristics

 Most commonly encountered inherited form of ID (X-

linked) caused by a repeated nucleotide sequence
 FMR-1 gene is very unstable and can lead to frequent
mutations, therefore it has a much higher chance of
mutation from generation to generation
 Can be detected by chromosomal analysis

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 FXS full mutation with ID is found in 1:3600 males and

1:4000-6000 females
 FXS full mutation without ID is found in 1:2000 males
and 1:4000 females
 1:625 females carries the gene
 Associated with all races, ethnicities and other
disabilities (autism, Down etc.)

Fragile X Co-Occurring Conditions (As

Males Females
reported by parents)

Developmental
Delay(https://www.cdc.gov/ncbddd/develop
96% 64%
mentaldisabilities/facts.html) or Intellectual
Disability

Attention Problems 84% 67%

Anxiety 70% 56%
Hyperactivity 66% 30%
Autism 46% 16%
Self-Injury 41% 10%
Aggressiveness 38% 14%
Seizures 18% 7%
Depression 12% 22%

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 Elongated face
 Prominent ears
 Hyperextensible joints
 Flat feet
 Connective Tissue dysplasia
 Macroorchidism(enlarged testes)
◦ Hallmark of the syndrome in postpubertal males
 20% of females may show premature ovarian failure
leading to early menopause

 Scoliosis
 Mitral Valve Prolapse in adults
 Connective tissue dysplasia
◦ Otitis media
 Hernia
 IQ 22 to 65 but can have near normal intelligence
 Speech anomalies
◦ Palilalia: self-repetitions as opposed to echolalia seen in
autism
◦ Requires the listener to respond
 Poor sleep regulation
 Seizures

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 Refractive Error(17%), sometimes high

 Nystagmus
 Strabismus
◦ Esotropia > Exotropia
 Ptosis
 Deficits in visual processing
◦ Short term auditory memory, spatial skills, visual-motor skills
(males)
◦ Visual discrimination, visual memory, visual form constancy,
visual figure ground and visual closure (females)

Defined
Prevalence/Incidence
Physical Characteristics
Systemic Characteristics
Visual Characteristics

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AUTISM: DEFINED
 A group of developmental disabilities characterized by
atypical development in:

Socialization Communication Behavior

 Multisystem disorder with documented abnormalities

in:

Gastrointestinal
Immune System Metabolism
System

 Often diagnosed prior  Associated abnormalities:

to the age of 3 years
 Occur in all racial, Cognitive
ethnic and Learning
Functioning
socioeconomic groups
 No known biologic Sensory
Attention
marker Processing

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Autism

Childhood Asperger’s
Disintegrative Syndrome
Disorder

Autism
Spectrum
Disorders

Pervasive Developmental
Rett Syndrome Disorder-Not Otherwise
Specified (PDD-NOS)

1% of population of American children is on

the Autism spectrum

• 1 in 68 (CDC report)
• CDC report claims could be up to 730,000 individuals up to
the age of 21

Gender influence

• 1 in 42 boys are on the Autism Spectrum

• Boys are 4.5 times more likely to have Autism than girls
• Girls manifest a more severe form

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 Named for a Viennese physician, Hans Asperger who

published a paper in 1944 on behaviors in several
young boys
 Typically diagnosed in the school aged child
 Difficulty with social, emotional and communication
skills
 Unusual repetitive behaviors and interests
 Typically do not have a language delay
 Average or Above Average IQ

 Children and Adults with Asperger’s may have:

◦ Difficulty with eye contact
◦ Odd and/or repetitive movements
◦ Unusual sensory responses
◦ Rituals they do not want to change
◦ Difficulty interpreting body language
◦ Difficulty understanding other’s feelings and displaying their
own feelings
◦ A unique tone of voice Monotone
◦ Difficulty interacting in social play
◦ Narrow interests and may want to only converse about
themselves or these interests

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 Many exhibit exceptional skill in an area:

◦ Perfect pitch
◦ Amazing drawing skills
◦ Ability to perform complex arithmetic calculations without
pencil and paper
◦ Can tell the day of the week on any given day of the year

Twin Studies
• Identical twins: sibling 36-95% likely to be on the
spectrum
• Non-identical: Up to 31% likely

Sibling Studies
• Parents who have a child with an Autism Spectrum
Disorder (ASD) are 2-18% likely to have another child
with an ASD

Associated Disorders
• 83% of children with an ASD have an associated
identifiable disorder
• Fragile X
• Down’s Syndrome
• Tuberous sclerosis

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Speech and Cognition

• 30-51% of children with an ASD have an intellectual
disability
• 40% of children with ASDs do not speak at all
• 25-30% of children speak some words between 12-18
months and then lose them
• Echolalia
• Delay in Responses
• Vocal when upset or overwhelmed
• Difficulty with social interaction

 Not responding to name by 12 months of age

 Not pointing at objects to show interest by 14 months of age
 Not playing pretend games by 18 months of age
 Avoiding eye contact
 Having trouble understanding feelings
 Repeating words or phrases over and over
 Gives unrelated answers to questions
 Upset by minor changes in routine
 Has obsessive interests
 Flaps hands, rocks body or spins in circles
 Unusual reactions to the way things sound, smell, taste, look
or feel

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 Toe walking and small steps

 Head turning/Looking out of corner of eye
 Squinting/Cannot look you in the eye
 Abnormal Posture/Sits awkwardly to feel the chair
 Self Stimulating Behavior – Stimming
 Rocking side to side or front to back
 Fidgeting/Touching Everything

 Hypersensitive or hyposensitive to touch, taste, smell or

sounds
 Words do not necessarily carry the same meaning as you
and I would interpret them to be
 Fears that may be irrational
 Difficulty relating to people and objects
 Tendency to be anxious around people
 A need for sameness

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Hypersensitive
 Covers ears
 Avoids messy foods
 Ticklish
 Picky about clothing
 Won’t walk on grass or
sand
 Gags at new foods
 Reacts to odors
 Picky eater
 Blinks excessively
 Covers eyes
 Poor eye contact
 Fearful of movement
 Gets car sick
 Fear of being upside down
Hyposensitive
 Attracted to sounds
 Likes vibrations
 Ignores food on face
 Self-injurious behavior
 Touches everything
 High pain tolerance
 Prefers spicy foods
 Smells clothing and objects
 Mouths objects
 Poor focus
 Lacks awareness
 Flicks fingers by eyes
 Seeks spinning
 Wiggles and squirms
 Rocks back and forth

 Visual Behavior that should be inquired about:

◦ Widens eyes when asked to look
◦ Squints or closes an eye
◦ Stares at objects or patterns
◦ Looks through hands
◦ Pushes or rubs eyes
◦ Light sensitivity
◦ Bumps into objects
◦ Flaps hands or flicks objects in front of eyes
◦ Confused at changes in flooring or stairways
◦ Difficulty making eye contact
◦ Fascinated by lights and shadows
◦ Touches walls or tables when moving through space

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Characteristics of Patients with Autism

Billy
12 years old
Blinking tics

Characteristics of Patients with Autism

Sarah
6 years old
Stimming (flapping of hands)

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 Poor fixation
 Oculomotor Dysfunction of pursuits
 Nystagmus
 Strabismus
 Convergence Insufficiency
 Binocular Dysfunction
 Poor integration of Central and Peripheral Visual
Systems
 Poor Visual Awareness
 Poor Visualization necessary for imaginative play

Defined
Prevalence/Incidence
Physical Characteristics
Systemic Characteristics
Visual Characteristics

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 Multisystem congenital disorder arising from heavy

maternal consumption of alcohol
 Development of brain cells and structures are
interrupted by alcohol exposure

 Affects infants of approximately 4.3% of mothers who

drink heavily during pregnancy
 1 in 1,000 live births in the United States
◦ 4 times higher than in Europe
◦ Appears to have relation to socioeconomic status
 Alcohol is the teratogenic factor but the actual
mechanism by which the presentation occurs is not yet
known.
◦ Difficult to pinpoint cause of developmental and birth
abnormalities as many of the pregnant women whose
children are affected are multi-substance abusers

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 Microcephaly
 Flat maxilla
 Thin upper lip
 Smooth philtrum(groove between nose and upper lip)
 Small palpebral apertures
 Ptosis
 Epicanthal folds
 Telecanthus

 Growth retardation
◦ Below average in height or weight or both (below 10th
percentile)
 CNS disorders
 Developmental delay and/or MR
 Urogenital, cardiopulmonary and skeletal anomalies
 Mental Health Issues
 Hyperactivity associated with decreased size of corpus
callosum
 Learning Disabilities

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 High myopia and astigmatism

 Oculomotor anomalies
 Strabismus
 Cataracts
 Optic Nerve hypoplasia

Defined
Characteristics
Visual Characteristics

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 Inability of the individual to organize sensory

information he/she receives
 Difficulty doing activities of everyday life
◦ Self care, work or leisure
 Sensory input may result in extreme avoidance of
activities, agitation, fear or confusion
 Controversial Diagnosis
 Associated with neurological, psychiatric, behavioral
and language disorders

 Over or under-response to sensory stimuli OR seeks

sensory stimulation
 Disorganized motor output as a response to
stimulation
 Incorrect processing of visual or auditory input
◦ Inattentive
◦ Disorganized
◦ Perform poorly in school
 Hypersensitive or hyposensitive
 Seen in patients with an Autism Spectrum Disorders
and ADHD

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 Altered Visual Processing

 Visual Characteristics of associated conditions

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 Snellen Letters
 Forced choice preferential looking- resolution acuity
◦ Teller acuity cards
◦ LEA paddles

 Forced Choice Preferential Looking-resolution acuity

◦ Cardiff Cards
 Held at 50 or 100 cm
 Each card is displayed four
times to patient

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 Forced Choice Preferential looking-resolution acuity

◦ Patti Stripes Square Wave Grating

 Forced Choice Preferential looking-resolution acuity

◦ Richman face dots test paddles
◦ Uses contrast sensitivity

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 Lea Symbols
◦ Recognition acuity *standard
◦ Can be done at near and at distance
◦ Matching
◦ Can be accessed on M&S in clinic
 Press “pix” on remote
 Broken Wheel test
 Distance only – 10 ft
 Landolt C

 OKN drum
◦ Involuntary visual response

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 LEA symbols (shapes)

 Allen optotypes- only goes to 20/30
 HOTV

 Visual Acuity should be relatively equal

◦ Significant is 2 lines difference

 Forced Choice Preferential Looking

◦ 1 month- 20/800
◦ 6 months- 20/100
◦ 1 year- 20/50
◦ 3 years - 20/20
 LEA, HOTV, Snellen
◦ 3yrs old – 20/40 - 20/20
◦ 5 yrs old – 20/20

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 H pattern EOM’s
 NSUCO/SCCO
◦ Norms start at 5 years old

 May have to use larger targets to try to assess

 May have to use targets that make noise

 Ishihara
 HRR
 Color Vision Testing Made Easy
◦ Matching

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 Attempt Confrontation Fields with finger counting

 Confrontation procedure with toys/targets

◦ Full to Toys
◦ Can be done OU

 NPC
◦ Interesting target
 Cover test
◦ Use thumb as occluder for young or small patients
 Rest hand on their head
◦ Fixation target with sound at distance
◦ Fixation target at near with illumination or sound

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 Resistance to Occlusion??
 10 pd vertical prism test
◦ Does the infant alternate fixation?
◦ Does he/she try to knock prism out of the way?
◦ Check over each eye

 Bruckner
◦ Strabismic/Amblyopic eye is brighter
◦ Gross assessment of refractive error
http://drjspangler.com

 Hirschberg /if needed Krimsky

◦ 1mm= 22pd

http://abcd-vision.org

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 Assessment of Stereopsis
◦ Stereo Smile Test
 Preferential choice looking
 RDS test- NEED TO BE BIFOVEAL
 At 55 cm
 Need to have VA at least 20/80
 Three levels
 Training
 480 sec arc*
 120 sec arc

www.richmondproducts.com

 Optional
◦ Lang II
 No glasses needed

◦ Keystone basic binocular test

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 Other options
◦ Stereo Fly

◦ Random Dot Butterfly

Stereoopitcal.com

 Worth 4 Dot or Three Figure Flashlight

◦ Flat fusion
◦ Diplopia
◦ Suppression

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 Keystone- Peek-A-Boo
◦ Test visual acuity, far; lateral coordination, far; fusion, far;
stereopsis/color, far; vertical coordination; fusion, near; lateral
coordination, near; visual acuity near.

Bernell.com

 Phoria
◦ Modified Thorington card
◦ Keystone cards- Peek- A- Boo
◦ Muscle Imbalance Measurement Cards
 For distance and near
◦ Howell Cards for distance and near

 Vergences
◦ With prism bar and interesting target
◦ Objective by watching eyes

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 NPC-convergence expected at norm by 6 months (2-3

inches)
 Cover Test - Alignment by 6 months
 Should have equal resistance to occlusion
 10 pd vertical prism test- response by 6 months
 Hirschberg and Bruckner should be equal and even
 Stereopsis emerges at 3-4 months and is well
developed by 6 months of age
◦ At 2 years old – should get Stereo Smile 480 seconds of arc
 Phorias and Vergences at norms by age 7 years

Yoked Prism Assessment:

Use 15^ yoked prisms.

Activity: ________________________
Trial each base direction (up,
down, right, and left).
Ability to perform task
Observe patient for changes in
Posture
areas listed.
Visual awareness
If one base direction positively
Spatial localization
impacts the patient, trial in
Increase or decrease in sensory seeking behaviors lower amounts to find the
lowest power with the
maximum benefit to the
Gait patient.

Organization Consider prescribing or

Eye contact with people or objects sending home to trial in
OT/PT/Speech/Home
Mood , facial expression activities…

Gross motor skills

Fine motor skills

Yoked Prism Assessment

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 Using Bruckner reflex to assess refractive error

 Only with very high refractive errors
◦ Inferior crescents- Myopia
◦ Superior crescents- Hyperopia

myopia

 Mohindra Retinoscopy
◦ Estimation of distance refractive error
◦ Dark room with only light source is retinoscope
◦ 50cm working distance
◦ Patient fixates on your retinoscope/light
◦ Use lens rack or loose lenses to estimate prescription
◦ Modification correction factor
 -1.25 if over two years
 -0.75 if under two years

Revoptom.com

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 MEM or other near retinoscopy

◦ Accommodative lag/lead
 Expected to be at norm, +0.75 by 4 months

 Pupils – well developed responses by 1 month

 IOP
◦ Finger Tension
◦ Tonopen
◦ Handheld/Standard NCT
 Anterior Segment
◦ Penlight/BIO with 20 D lens
◦ Standard/Handheld Slit lamp
 Posterior Segment: Dilated Fundus Evaluation
◦ Standard/Handheld Slit lamp
◦ BIO
◦ Panoptic
◦ Monocular indirect ophthalmoscope (MIO)
◦ OPTOS

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 Use whatever test you can get a response from

 May have to be a completely objective assessment
 Work at their ability level
 Consider you may need more than one visit

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 Recommended Reading:
◦ Visual Development, Diagnosis, and the Treatment of the
Pediatric Patient by Robert Duckman
 Chapter 25
◦ Visual Diagnosis and Care of the Patient With Special Needs by
Marc Taub
 Chapters 3, 4, 5, 8, 9, 14

Questions?

 kajensen@westernu.edu

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