Congenital Cataract;

Current
Diagnosis and Management
ORBIS Cybersight
June 12th, 2020
Donny W. Suh, M.D.
Professor
Chief of Pediatric Ophthalmology
Children’s Hospital and Medical Center
University of Nebraska Medical Center
 Thank You!
>2000 participants
• No Financial Interest in Any of the Topics Discussed.
 Question
• What is your profession?
1. General Ophthalmologist
2. Pediatric Ophthalmologist
3. Ophthalmic Technicians / Orthoptists
4. Doctor in training (resident / fellows)
5. Other – Specify
 Question
• How Many Cases of Congenital
Cataracts do you perform per month?
1. 0 to 1
2. 2 to 4
3. 5 to 10
4. 10 to 20
5. >20
 Question
• How Long Have you practiced in
ophthalmology
1. 1 to 5
2. 6 to 10
3. 11 to 15
4. 15 to 20
5. >20
 Overview

• What is Cataract? Embryology

• Diagnosis and Management
• Timing of Surgery
• IOL?
• Preoperative consideration
• Surgical Techniques
• Postoperative considerations
 Lens: Embryology
• The surface ectoderm over the eye field
thickens into the lens placode.
 Lens: Embryology

• Invaginates toward the developing optic

cup, forming the lens pit.
Lens pit closes, and the resulting lens vesicle
(LV) pinches off from the surface ectoderm;
forming Human Lens around 4 weeks GA
29 Week GA Cataracts
 Lens
• Lens transmits light with wavelengths from
390 - 1200 nm.
– limit of visual perception (390 to 740 nm).
• Lens transparency: Architecture of lens
cells and tight packing of the proteins
• At birth, lens weighs 65 mg. It grows to
about 160 mg in the first decade and then
more slowly to about 250 mg by 90 years of
age. (4 X the weight !)
 Lens Composition
• Mostly water-soluble proteins:
– Crystallins (90% of the lens)
– Critical structural role for transparency and refraction
– α-crystallin 40%, β-crystallin 35%, and γ-crystallin
25%
• Lens opacity ( cataracts)
– malfunction of α-crystallin due to genetic basis or
ageing
• Encoded by CRYAA on chromosome 21q22.3
and CRYAB on chromosome 11q22-q22.3
– Also expressed in skeletal muscles, heart, kidney and
brain
 Growth of Eye
• Newborn eye axial length (AL)
– AL: 16.8 mm
• In adults
– AL: 23.6 mm
– 40% increase!

• Lens also reduces its refractive power to

compensate the axial length changes.
– if not we all we would be wearing very thick myopic
glasses
 Growth of the Lens
• Lens changes significantly 1st year of
life to compensate for the AL.
– > 50% growth in axial length occurs before 1
year of age
 Prevalence of Congenital Cataracts (CC)

• WHO estimated that 2.2 billion people are visually

impaired around the world, out of which
65.2 million people are affected with cataract
https://www.who.int/publications-detail/world-report-on-vision

• 14 million children are bilaterally blind from

cataracts
 Congenital cataracts:
Overview
• One of the most common Treatable
cause of childhood blindness
– 1/3 of cases of blindness in infants
• 15% of blindness worldwide
• Prevalence
– 1 / 2,000 – 1 / 10,000
• If untreated, vision loss occurs due to
stimulus depravation
 How Do They Present?
• Family history
• Abnormal reflex (Leukocoria) per
parents
• Fetal Ultrasound
– Fetal orbits and lenses can be seen by ultrasound from 14 weeks

• Sudden onset in older children (DM)

• Referred on routine Vision Screening
 Description of Congenital
Cataract

• Unilateral vs bilateral
• Congenital vs acquired
• Partial vs complete
• Stable vs progressive
• Isolated vs assoc. with systemic dz
 Etiologies: Overview

• Bilateral Cataract Causes

– ¼ hereditary: most common AD
– ¼ associated diseases
– ½ idiopathic*
• Genetic testing
 Etiologies: Overview
• Unilateral Cataracts Causes
– Idiopathic (most common)
– Traumatic
– Post Lenticonus
– PFV/PHPV
– Uveitis
– ROP treatment - Laser
– Secondary to RD/RB
• Genetic testing: more common
– Idiopathic
 Question
• Do you routinely refer CC patients for
Genetic Testing?
1. Yes
2. No
3. Certain Cases
4. This service is not readily available
 Question
• When do you refer CC patients for
Genetic Testing?
1. All cases
2. All Bilateral Cases
3. All Unilateral Cases
4. If negative Family H/O, No systemic
disease, and Negative w/u
5. Other – specify
 Bilateral Cataracts Etiologies
• Chromosome
– Trisomy 21, 13, 18
• Cranial facial syndromes
– Hallerman-Streiff
– Rubenstein-Taybi
– Smith-Lemli-Opitz
Bilateral Cataracts Etiologies

• Intrauterine Infection
– Rubella
– Toxoplasmosis
– Herpes
– CMV
– Varicella
– Syphilis
• Uveitis
 Bilateral Cataracts Etiologies
• Metabolic diseases
– Galactosemia, Fabry, Wilson, Mannosidosis, DM,
Chondrodysplasia Punctata, MPS
• Musculoskeletal disorders
– Albright syndrome
– Myotonic dystrophy
– Sengers syndrome (hypertrophic cardiomyopathy)
• Renal Syndrome
– Lowe syndrome
– Alport syndrome
How to Evaluate?
 Evaluation of Cataracts
• Family History
• Detailed history of child growth, development and
systemic disorders, trauma
• Pediatric physical examination
– hearing loss, mental retardation, development delay,
kidney disease, possible chromosomal abnormalities
• Ocular Examination
– Laterality
– K diameter
– Iris configuration
– AC depth
– Lens position
– Cataract morphology
 Evaluation of Cataracts
• Posterior Segment
– Rule out posterior mass
– Rule out RD
– Rule out optic nerve stalk to lens
• IOP
• Ultrasound if no view of the posterior
pole
 Laboratory Studies

• NO Workup:
– Unilateral: no other systemic findings
• Complete physical exam by pediatrician
– Bilateral:
• Positive family history

– Genetic Testing becoming more common*

 Workup
• Infection: TORCH profile, varicella titer (maternal rash
during pregnancy), VDRL
• Metabolic:
– Galactose metabolism:
• Urine for reducing sugar, Galactose-1-phosphate
uridyltransferase, Galactokinase
• Urine and Plasma amino acid (Lowe)
– Calcium (low in hypoparathyroidism)
– Phosphorous (high in hypoparathyroidism)
– Blood glucose, 7 dehydrocholesterol
– Ferritin (high hyperferritinemia)
– CXR (hypertrophic cardiomyopathy)
• Morphology based workup:
 Workup
• Geneticist for further testing
– Dysmorphic, Not feeding well with developmental
delays
– Congenital cataract NGS (Next Generation Sequencing)
test from a commercial lab: > 70 to 80% of patients
– Challenge: Cost of tests and the variable insurance
coverage
Types of Cataracts
 Anterior Polar Cataracts
(APC)

• < 3mm in diameter

• Unilateral or bilateral
• Anisometropia and amblyopia
 Types of Anterior Cataract
1. Dot anterior polar (aka anterior capsular). Usually benign
and stable, can sometimes cause amblyopia. The capsular
portion does NOT enlarge. It is the underlying anterior
cortical component, if any, that grows

2. Anterior pyramidal. Histologically this is heaped up PAS

+ material. The pyramid does not grow but underlying
cortical component can. May be large with protrusion and sx

3. Anterior lenticonus. anterior cortical cataract and can

enlarge: Look for renal disease!
 Anterior Cataract
4. Anterior subcapsular (aka anterior cortical). These can
enlarge: Assoc w/ trauma, radiation, uveitis, atopic skin
disease

5. PFV “traction cataract” : Eccentric anterior capsule plaques

associated with persistent iris strands arising from the
collarette. The strands can break leaving pigment on the lens
capsule. May need removal if visually significant.
 Nuclear Cataracts
• Opacities that involve the center or nucleus
• 3 mm or larger
• Irregularity of the lens fibers extend into periphery
• Bilateral in most cases
• Inherited or sporadic
• Congenital but may become dense as they grow
• Risk of glaucoma
Nuclear
Nuclear
 Lamellar Cataract
• Discrete, round shape, lamellar cataracts
affect 1 or more layers of the developing
lens cortex surrounding the nucleus
• 5 mm or larger
• Bilateral more common
• Good prognosis
Lamellar
Posterior Subcapsular Cataract
(PSC)
• PSC less common in children
• Acquired and bilateral and progressive
• Corticosteroids, uveitis, radiation exposure
• Processive
• PSC seen in NF type 2
 Sectoral Cataract
• Wedge shaped cortical cataract
• Idiopathic
• Occult posterior segment tumor, blunt
trauma, retinal coloboma with fibrous bands
attached to the posterior lens capsule
 Peripheral Vacuolar Cataract
• Premature infants
• Idiopathic
• Encountered during ROP exam
• Visually insignificant and can resolve
with time
 Posterior Lenticonus
• Progressive thinning of central
posterior capsule
• Bulging posterior lens capsule
• Oil droplet on retinoscopy
• Unilateral in most cases
• Lowe syndrome
• Caution during surgery!
 PFV (Anterior/Posterior/Combined)

• Microphthalmia
• Glaucoma
• 90% unilateral
• Elongation of Ciliary process
• Poor prognosis
 Persistent Fetal Vasculature
• PFV (PHPV): most common cause of unilateral cataract
• Idiopathic in unilateral cases
• Bilateral: Assoc with systemic and neurological abnormalities
• Spectrum of severity
– Hyaloid vessel remnants, Mittendorf Dot, Bergmeister
papilla
– Opacity of retrolental plaque: Cartilage and fibrovascular
tissue
– Thick fibrous persistent hyaloid artery with traction of the
optic n. and retina.
• RB may be considered: microphthalmos and cataracts unusual
Management
 Management
• Most Anterior opacities
– No surgery ( retinoscopy)
– Irregular astigmatism
• Younger the patient: Denser the cataract
before consider sx.
• Refract to see if glasses help in older
children (subluxation)
• Treat amblyopia for partial cataracts
– Dilation or Patching
– Watch behavior while patching
Pediatric Cataract Surgery Considerations

• Different than Adult Sx

– Etiology may need to be determined
– 3 per 10,000 live births: rare
– Elastic Ant and Post capsules / Smaller
– Visual outcome – amblyopia
– Post op care: complicated/increased inflammation / PCO
100%
– Multiple surgeries may be needed
– Long term issues and management
– Become lifelong patients
 Pediatric Cataract Surgery
Considerations

• Requires General Anesthesia

• Small Palpebral Fissure
• Soft Eye and leak: Close surgical incisions
• Shallow AC (1.2 mm vs. 3-4 mm)
• Poor Pupil Dilation
• Aphakic or IOL
• Posterior Capsule management/ VAO
 Pediatric Cataract Surgery
Impact
• Parents
– Anxiety and fear level
– Unknown
– Guilt
– Greater Psychosocial impact than the
physical well-being (Multiple studies)
 Pediatric Cataract Surgery
Impact
• Dx and Treatment has negative long- term
impact on parents and children
• HR-QoL in children/parents with CC
– Similar to levels of Severe Heart Defects or
Liver Transplants
• Psychosocial scores:
– comparable to children undergoing Acute
Lymphocytic Leukemia treatment
 You Say
• “ Your child has a congenital cataract
and we may be able to fix it”

Parents Hear
• “There is something wrong with my
baby’s eye, she may be BLIND for the
rest of her life”
 Potential Miscommunication

• Parents
– Internet search
– Neighbors/ Friends
• “Stem cells help / Gene therapy”
• “Bifocal implants”
• “Laser can fix anything”
• “Eye Transplants (Artificial Eyes)”
 When to intervene?
• Dense cataracts
– Urgent removal and optical correction
– Nystagmus = poor prognosis, can resolve
• Partial cataracts
– Judgment call
– Party line: 3 mm or greater
– Patching helpful
• Central and posterior cataract: more visually
significant
 When to intervene?
My approach:
• Central >3mm in diameter; Retinoscope
• Assoc w/strabismus
• Assoc w/ nystagmus
• Retinoscopy
– If you can’t refract, then baby can’t see
• Direct ophthalmoscopy
– If you can’t see, then neither can baby
Timing of Surgery
 Question
• Timing of Unilateral Cataract?
1. At Birth
2. < 2 weeks
3. 2 to 4 weeks
4. 4 to 10 weeks
5. 10 to 16 weeks
 Question
• Timing of bilateral Cataract?
1. At Birth
2. < 2 weeks
3. 2 to 4 weeks
4. 4 to 8 weeks
5. 8 to 12 weeks
 Question
• Timing between Bilateral Cataracts for Sx?
1. Same Day ( change drapes)
2. 1 week
3. 2 weeks
4. 4 weeks
5. 8 weeks
 Question
• At what age do you try to place IOL in
congenital cataract cases? Unilateral cases
1. Never
2. From birth
3. 6 mo to 11 mo
4. 1 yo to 2 yo
5. >2 yo
 Question
• At what age do you try to place IOL in
congenital cataract cases? Bilateral
cases
1. Never
2. From birth
3. 6 mo to 11 mo
4. 1 yo to 2 yo
5. >2 yo
 Timing of Surgery
• Unilateral dense congenital cataract:
– Unilateral: 4 -10 weeks ( health of the baby)
– Risk of glaucoma with earlier cat sx IATS
• < 4 weeks)

• Bilateral dense cataract:

– Bilateral: 2 - 3 months
– Short time interval between cases
– Bilateral sx on same day not recommended
• Cost/Risk of Anesthesia
Travel/Location/Availability of Healthcare
IOL or No IOL? Considerations
– Unilateral vs Bilateral cataracts
– Nystagmus
• Contact lenses difficult to fit and position
– Dry eye
• e.g. previous radiation therapy
– Dirty or sandy living conditions
– Availability of CTL or Glasses
– Compliance and Hygiene concerns
– Behavioral issues
– Cost
– Follow up issues
IOL or No IOL? Considerations
• Children with chronic inflammatory disease
– Active Uveitis or poorly controlled JIA iritis
• Nanophthalmos
• Microphthalmia, with corneal diameters of
less than 9 mm,
– difficulties with lens size.
IOL or No IOL? Considerations
• Less than <7 months old
– IATS higher complication (VAO) and repeat sx
• >7 months: accepted
• Corneal diameter 9 -10 mm or greater
• Lens diameter 8 mm or greater
– IOL lens diameter 6.0 mm
– Cut the haptics in IOL to fit in smaller eye
 Once IOL Placement Decided
• Measurement of AL and K
– Difficult in office setting
– Manual or automated Keratometry
• EUA needed
• Errors in measurement
– Lack of fixation under GETA
– A scan biometry should be performed OU
 Biometry
• Conventional U/S biometry
– Applanation vs Immersion
• Optical biometry
 Contact vs Immersion
• Contact:
– Convenient
– Accurate with trained technicians
– Corneal compression: 0.32 mm error rate
• Due to soft cornea and sclera
• Immersion:
– More accurate
– Low risk of error
– Cumbersome procedure
– More time required
 Once IOL Placement Decided
• Perform lensectomy
• Place IOL (in bag if possible)
• Primary posterior capsulotomy vs
YAG in future
 AL Error
• 1.0 mm error: 3.0 D
– In long eyes: 1.75 D
– In shot eyes: 3.75 D
 AL Error prevention
• Well trained biometrist
• Calibrate manual kerotometer/ IOL
masters
• CTL out for 2 weeks before
keratometry
• IOL under correction
 Choosing IOL
• PMMA
– Longer experience
– Large wound
• Silicone
– Future risk of retinal issues
• Acrylic
– Small wound
– SA/SN series very flexible
– SA/SN series edge design
 IOL Calculation Dilemma

• Difficult Issue: varying degrees of

refractive myopic shift after surgery
 IOL Calculation Dilemma
• Refractive outcomes
– Growth of eye follows logarithmic curve with
greatest growth in first 2 years of life
– Refractive growth continues up to 20 y/o
– AL increases from 16.8mm @ birth to 23.6 mm
in adults
– Corneal curvature decreases from 51.2D to
43.5D
 Projected Lenticular Refractive Changes
-16.00

-14.00

-12.00
Diopter Change

-10.00

-8.00

-6.00

-4.00

-2.00

2.00
0 2 4 6 8 10 12 14 16 18 20

Age
 IOL Calculation Dilemma
IOL power: Target refraction

• Problems with any formula:

– Anticipation of ocular growth with
Individual variability
– Growth and other optical factors mean
possible shift of 20 D from age 0-20 yr.
– Lens position changes with ocular growth
IOL power: Target refraction
• Two Schools of Thought
– Emmetropia
• Easier to treat amblyopia
• Deal with high myopia later
• An implant of 28 D producing emmetropia
in an 8-month-old may induce 7 D of
myopia and anisometropia when the child is
3 yo.
– Low power IOL – aim for 6-10 D hyperopia
• Supplement with contact lenses for first year
Commonly used Age Adjusted
Target Refraction
• Age • Refraction
• 1 • +4.0 to +6.0
• 2 • +3.5 to +4.0
• 3 • +2.5 to +4.0
• 4 • +2.5 to +4.0
• 5 • +2.0 to +3.0
• 6 • +2.0
• 7 • +1.5
• 8 • +1.0
• 9 and over • emmetropia
 Which Formula?
• A study comparing the predictive accuracy
of four common IOL power formulas (SRK-
II, SRK-T, Holladay, and Hoffer Q) in
children did not reveal any significant
predictive differences between the formulas.
• SRT /T in most patients
– Barrett Universal 2
• Hoffer Q in infants <1 yo
Surgical Technique
 Keep It Simple!

• “Simple can be harder than

complex: You have to work hard to
get your thinking clean to make it
simple. But it's worth it in the end
because once you get there, you can
move mountains." - Steve Jobs
KEEP IT SIMPLE!
Watch Your Posture
 Surgery
• Dilation – important
• Povidone Iodine 5%
• Phenylephrine in IVF
• Tight incision with tunnel –soft eye
• Vision Blue
• I/A / Vitrector and No PHACO
• Viscoelastics*
• Triesence and Moxifloxacin (Subconjunctival and
intracameral injections)
• 10.0 Vicryl to close
• Wound check: Seidel
– No Heparin, Post-op Dilation, Air bubble post op
Honey vs. Gelatin Viscoelastics
 Anterior Capsule
• Capsulorrhexis is much more difficult in
children
• If the tear begins to extend too far to the
periphery of the lens, the technique should
be abandoned rather than risk an area of
zonulolysis.
• Trypan Blue dye helpful
• Around 4.5 to 5.5 mm opening
– IOL 6mm
Adult Lens
 Tips for Anterior Capsule
Capsulorrhexis
• Very elastic
• Radial Forces
• High Viscosity viscoelastic
– Healon GV
• Pull more Centrally
– 45 to 90 degrees from intended direction
Anterior Capsule Vitrectorhexis;
AC capsulectomy

• PHPV with scars

• Dense/Fibrous AC capsule
• Failed CCC
• Younger than 3 months of age
• If not comfortable with CCC
 Anterior Vitrectorhexis
• Vitrector over capsule
• Start in Middle and enlarge
• 23 gauge for Both (same size)
• Corneal incisions: Watertight
 Lensectomy
• Hydrodissection/ Hydrodelineation
may be performed with caution
• Removal of lens cortex is required
– Vigorous inflammatory response
– Clean posterior surface of anterior
capsule: VAO
 Ant and Post Capsulectomies

• Tight Fit; Clear Corneal Incision

• Micro-forceps
• Vitrector:
– Anterior capsulectomy: 150-300 cutting rate/Vacuum
300
– Nucleus: Aspiration 30 Vacuum 100-500; IOP 30
– Posterior capsulectomy and Vitrectomy:1000 cutting
rate/Vacuum 300
Posterior Capsule Management

• 100% opacify even with Acrylic materials

• Primary posterior capsulotomy vs
Capsulectomy
• Leave PC intact age of 4; YAG later
• Problem: Recurrence is common after
YAG
Posterior Capsule Management
• 4 yo or older
– Leave PC intact : YAG
• < 4 yo
– Posterior capsulotomy (PC Vitrectorhexis
or PCC)
• Approach
– Anterior approach after IOL placement
– Pars plana approach after IOL placement
3.5 - 4.5 mm
 IOL Choices
• MN60, SA60AT and SN60AT
– Acrylic
– One piece
– 2.4 mm corneal incision
– Flexible that Unfold slowly
IOL Placement with Open PC
Video of Surgery
PCC before IOL
Lueke Cannula AC maintainer
 Post-Op management

• Intra-ocular injection: Triesence 4mg / Moxifloxacin

• Depot subconjunctival steroid / Moxifloxacin
• Topical steroids every 4X day for 1 week
• Taper over 3 weeks
• No IOL capture
• No Miostat /AT
• Eye Shield at Night X 4 weeks
– Glasses during daytime.
YAG if Clinic procedure not
possible
 Post Op Management
• Long Term F/U
• Refraction,
– CTL and Glasses
• Amblyopia Treatment
• Strabismus
• Nystagmus
 Visual Rehab
• Bilateral Aphakia:
– Glasses or CTL
– < 4 yo: Overcorrect for intermediate
distance
– 4 yo or older: Bifocals
• Unilateral Aphakia:
– CTL and later IOL if possible
 Vision Outcomes
• Wide Range
• Unilateral cases: worse prognosis
• 6 yo outcome in various studies:
– Unilateral: 20/200
– Bilateral: 20/60
 IATS Vision Outcome in
Unilateral CE
• VA 20/160
• More Intraoperative complications
with IOL (11% vs 28%)
• More adverse events by 4.5 yo f/u with
IOL
• Additional Surgeries with IOL
• No benefits of IOL
 Glaucoma
• IATS: 5 yo post op: 17% ( 10 to 20%)
• Risk Factors
– SX before 4 weeks of age
– PHPV
– Microcornea <9mm
 Suspect Glaucoma
• Photophobia with Cloudy cornea
• Agitation
• IOP
• Serial refractions
• Axial length (EUA)
• Evaluation of Optic Nerve
• Pachymetry
• EUA
 Strabismus
• Most unilateral cataracts
• 70% of bilateral cataracts
• Amblyopia 90%
• Often small angle deviations
• Nystagmus often lead to late diagnosis
 Points to Remember
• Pediatric Cataract Sx Not Equal to Adult
Cataract Sx
• Family needs psychological support
• Good Aphakia better than bad IOL
• Visual Rehabilitation after Sx More
Important
 Points to Remember

• Keep the Procedure as Simple as

Possible and use familiar instruments
• Have someone watch Your Posture!
Enjoy the Journey!
 Thank You!

Donny W. Suh, MD, FAAP, MBA

ORBIS Volunteer Faculty