congenital cataract for undergraduate MBBS Students. Also covers salient points for PGMEE. Aetiology, clinical features and management discussed in detail.

1. CONGENITAL CATARACT
Dr. Abhishek Onkar

2. • Congenital cataracts usually are diagnosed at birth.
• If a cataract goes undetected in an infant, permanent visual loss may
ensue.
• Not all cataracts are visually significant. If a lenticular opacity is in the
visual axis, greater than 3 mm in diameter are generally considered
visually significant and may lead to blindness. Also anisometropia >
1D
• If the cataract is small, in the anterior portion of the lens, or in the
periphery, no visual loss may be present.

3. • Unilateral cataracts are usually
isolated sporadic incidents.
• associated with ocular
abnormalities (posterior
lenticonus, persistent hyperplastic
primary vitreous, anterior segment
dysgenesis, posterior pole tumors)
• Trauma
• intrauterine infection, particularly
rubella.
• Bilateral cataracts are often
inherited and associated with other
diseases.
• require a full metabolic, infectious,
systemic, and genetic workup.
• Hypoglycemia
• Trisomy
• myotonic dystrophy
• infectious diseases [TORCH]
• prematurity

4. Pathophysiology
• The lens forms during the invagination of surface ectoderm overlying
the optic vesicle.
• The embryonic nucleus develops by the sixth week of gestation.
• Surrounding the embryonic nucleus is the fetal nucleus. At birth, the
embryonic and fetal nuclei make up most of the lens.
• Postnatally, cortical lens fibers are laid down from the conversion of
anterior lens epithelium into cortical lens fibers.

6. • The Y sutures are an important landmark because they identify the
extent of the fetal nucleus. Lens material peripheral to the Y sutures is
lens cortex, whereas lens material within and including the Y sutures
is nuclear. At the slit lamp, the anterior Y suture is oriented upright,
and the posterior Y suture is inverted.
• Any insult (eg, infectious, traumatic, metabolic) to the nuclear or
lenticular fibers may result in an opacity (cataract) of the clear
lenticular media. The location and pattern of this opacification may
be used to determine the timing of the insult as well as the etiology

8. Punctate/cat. Coerulea/BLUE DOT
CATARACT/cat. Centralis pulverulenta

9. SUTURAL

11. Anterior capsular/Polar cataract
• Anterior pyramidal
• Anterior cortical
• Buried opacity- imprint
• Reduplicated cataract

12. Fusiform/ spindle-shaped/ axial/ coralliform
cataract
• Antero-posterior spindle-shaped opacity, with off-shoots resembling
corals
• Genetic association
• Discoid cataract: also familial, ill-defined opaque disc just behind
nucleus in the posterior cortex.

18. Epidemiology
• Incidence is unknown.
• the rate of congenital cataracts is probably much higher in
underdeveloped countries.
• Visual morbidity may result from deprivation amblyopia, refractive
amblyopia, glaucoma and retinal detachment.
• Metabolic and systemic diseases are found in as many as 60% of
bilateral cataracts.
• Mental retardation, deafness, kidney disease, heart disease, and
other systemic involvement may be part of the presentation.

19. History
• Congenital cataracts are present at birth but may not be identified until
later in life. Prenatal and family history is helpful.
• Some cataracts are static, but some are progressive. This explains why not
all congenital cataracts are identified at birth.
• Anterior polar cataract and nuclear cataract are usually static, although
they may rarely progress.
• Cataracts that typically progress include posterior lenticonus, persistent
hyperplastic primary vitreous, lamellar, sutural, and anterior or posterior
subcapsular. They usually have a better prognosis because they only usually
begin to obstruct the vision after the critical period of visual development
has passed.

20. Physical
• Description of a congenital cataract must include location, color, density,
and shape for purposes of identification.
• An irregular red reflex is the hallmark of visual problems.
• Leukocoria or white reflex can be the presenting sign of a cataract. In fact,
60% of patients who presented with leukocoria had congenital cataracts
(18% unilateral and 42% bilateral).
• Slit lamp examination of both eyes (dilated pupil) not only may confirm the
presence of a cataract but also may identify the time when the insult
occurred in utero and if there is other systemic or metabolic involvement.
• Dilated fundus examination is recommended as part of the ocular
examination for both unilateral cataract cases and bilateral cataract cases.

21. Causes
• The most common etiology includes intrauterine infections, metabolic
disorders, and genetically transmitted syndromes.
• One third of pediatric cataracts are sporadic
• 20-25% of congenital cataracts are familial. The most frequent mode
of transmission is autosomal dominant with complete penetrance. All
close family members should be examined.
• Infectious causes of cataracts include rubella (the most common),
rubeola, chicken pox, cytomegalovirus, herpes simplex, herpes zoster,
poliomyelitis, influenza, Epstein-Barr virus, syphilis, and toxoplasmosis

22. DD
• RETINOBLASTOMA
• PHPV
• COAT’S DISEASE
• RETINAL DETACHMENT

23. WORK UP
• For unilateral cataracts, laboratory studies include TORCH titers and
Venereal Disease Research Laboratory (VDRL) test.
• For bilateral cataracts, laboratory studies include CBC, BUN, TORCH
titers, VDRL, urine for reducing substances, red cell galactokinase,
urine for amino acids, calcium, and phosphorus.
• Imaging Studies
• CT scan of brain may be performed.
• Hearing test

24. Management
• Not all pediatric cataracts require surgery.
• A small, partial or paracentral cataract can be managed by
observation.
• Pharmacologic pupillary dilation with phenylephrine or tropicamide
can be helpful.
• Part-time occlusion may be necessary in unilateral or asymmetric
cases that develop or are at risk for amblyopia. These techniques may
at least delay the need for surgery until a point when eye growth has
stabilized and an IOL can be implanted with less refractive
uncertainty.

25. • A genetics evaluation is warranted if bilateral cataracts or any other
anomalies are present.
Diet
• Restriction of galactose, if galactosemia is present, may reverse the
progression of the classic "oil droplet" cataract.

26. Surgical Care
• Cataract surgery is the treatment of choice and should be performed
when patients are younger than 17 weeks to ensure minimal or no
visual deprivation.
• Most ophthalmologists opt for surgery much earlier, ideally when
patients are younger than 2 months, to prevent irreversible
amblyopia and sensory nystagmus in the case of bilateral congenital
cataracts.
• The delay in surgery is because of glaucoma. Since glaucoma occurs in
10% of congenital cataract surgery, many surgeons delay the cataract
surgery.

27. • Advisable not to operate lamellar cataracts until 1-2 years of age
unless:
Completely opaque lens
Non-dilating pupil
Squint develops
Nystagmus develops
• Surgical results in U/L congenital cataracts poor unless operated
within first 6 weeks of life with CL fitting post-op.

28. • Critical period for developing fixation reflex in both U/L & B/L visual
deprivation disorders is between 2-4 months of age.
• Any cataract dense enough to impair vision must be dealt before this
age, ASAP, provided the child is medically fit for GA.
• IOL’s re preferred in >2 years of age(ocular growth almost complete)
and in U/L cataracts

29. Surgery
• The timing of surgery is critical for visual development.
• Most investigators recommend surgery within the first two months of life.
• In cases of bilateral cataracts, it may be advantageous to perform surgery on both eyes in
the same intervention to allow for simultaneous initiation of visual rehabilitation as well
as reducing exposure to general anesthesia.
• Removal of the lens can be approached through the limbus or the pars plana.
• A manual continuous curvilinear capsulorhexis (CCC), which is the preferred method in
adult eyes, can be difficult in pediatric cases due to the elasticity of the pediatric capsule.
• A mechanized circular anterior capsulectomy, known as vitrectorhexis has been proven
to be a very good, safe alternative if the CCC is not possible.
• Pediatric cataracts are soft and therefore phacoemusification is generally not needed.
The lens cortex and nucleus can be removed with an irrigation-aspiration or vitrector
hand piece.

30. • To reduce the risk of posterior capsule opacification most surgeons
perform a posterior capsulorhexis at the time of surgery. IOL
implantation in children is felt to be safe and acceptable in children as
young as one year.
• The refractive goal of surgery is also controversial. Most surgeons will
chose to make the child hyperopic but there is currently no agreed
upon standard. These children will need bifocal glasses for the rest of
their lives.
• The sclera in children is soft and elastic and it is difficult to achieve a
self-sealing incision, thus the incision should be closed using 10-0
nylon or Vicryl suture

32. • Extracapsular cataract extraction with primary posterior
capsulectomy and anterior vitrectomy is the procedure of choice (via
limbal or pars plana approach).

35. F/U
Deterrence/Prevention
• A red reflex is essential not only in the newborn nursery but also in all
office visits.
• Frequent eye examinations help in the prevention of amblyopia.
• Frequent glaucoma screenings are needed throughout the patient’s
lifetime

36. Complications
• Loss of vision even with aggressive surgical and optical treatment
• Amblyopia
• Glaucoma
• Strabismus
• Retinal detachment

37. Prognosis
• Of persons with unilateral congenital cataracts, 40% develop visual
acuity of 20/60 or better.
• Of persons with bilateral congenital cataracts, 70% develop visual
acuity of 20/60 or better.
• The prognosis is poorer in persons with other ocular or systemic
involvement

38. Patient Education
• Removal of the cataract is only the beginning. Visual rehabilitation
requires many years of refractive correction (eg, contact lenses,
aphakic glasses), possible patching for amblyopia, possible strabismus
surgery, and glaucoma screenings.
• Patients must be made aware of the risk of potential visual loss from
amblyopia, retinal detachment, or glaucoma.
• Repeated surgical procedures, including a secondary lens implant if
other modalities of refractive correction fail, may be needed.
• If this is a de novo chromosomal change or a familial abnormality, all
siblings and future offspring are at risk.

39. Recent advances in cataract management
1. FACS:
• Femtosecond laser associated cataract surgery
• Precise incisions, capsulorhexis, nucleus division
2. IOL’s:
• Multifocal
• Accomodative
• Toric
• Square-edged
• Rollable