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Congenital and Pediatric Cataract

Lens opacities present at birth or developing in childhood; the leading treatable cause of childhood blindness worldwide; requires urgent surgical intervention within the first 6 weeks (unilateral) or 8 weeks (bilateral) to prevent dense amblyopia.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

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This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Göz Hastalıkları department. Book Appointment →

What is Congenital and Pediatric Cataract?

Pediatric cataract is opacification of the crystalline lens in children, encompassing congenital cataract (present at birth or within first year), infantile cataract (under 1 year), juvenile cataract (1–18 years), and traumatic cataract. Worldwide prevalence is 1–6 per 10,000 live births in developed countries, 5–15 in developing countries, and it is the leading treatable cause of childhood blindness with up to 200,000 blind children globally.

Etiology: 50 percent idiopathic, 25 percent hereditary (autosomal dominant most common — CRYAA, CRYBB, GJA8 gene mutations), 15 percent associated with systemic disease (galactosemia from galactose-1-phosphate uridyltransferase deficiency, Lowe oculocerebrorenal syndrome, neurofibromatosis type 2, Down syndrome, congenital rubella syndrome, intrauterine TORCH infections, juvenile diabetes), 10 percent associated with ocular abnormalities (PHPV — persistent hyperplastic primary vitreous, microphthalmos, aniridia, anterior segment dysgenesis). Workup: family history (3-generation pedigree), TORCH titers, urine reducing substances (galactosemia), serum and urine amino acids, karyotype if syndromic features.

Morphology and visual significance: types include nuclear (central, dense, vision-threatening), lamellar / zonular (most common, surrounding fetal nucleus), polar (anterior or posterior, axial), sutural, cerulean (blue dot, often non-visually-significant), Mittendorf dot (remnant of hyaloid artery, non-progressive). Visual significance is determined by size (> 3 mm central involvement), location (axial), density (obscures fundus details on retinoscopy), and presence of nystagmus or strabismus.

Symptoms

White or grey pupil (leukocoria — emergent referral)
Asymmetric red reflex on Bruckner test
Strabismus (esotropia or exotropia)
Nystagmus (poor prognostic sign — implies bilateral visual deprivation)
Failure to fix and follow at appropriate age
Photophobia
Reduced visual behavior, poor eye contact
Often detected at routine newborn exam or pediatric well-child visit

Risk Factors

Family history of childhood cataract (autosomal dominant most common)
Maternal infection in pregnancy (rubella, toxoplasmosis, CMV, herpes — TORCH)
Galactosemia (galactose-1-phosphate uridyltransferase deficiency)
Down syndrome (trisomy 21)
Lowe syndrome (oculocerebrorenal — X-linked)
Premature birth, low birth weight
Maternal corticosteroid use in pregnancy
Trauma (penetrating eye injury, blunt trauma)
Long-term steroid use (asthma, juvenile idiopathic arthritis)
Radiation exposure
Other syndromes: Alport, Marfan, neurofibromatosis 2, congenital myotonic dystrophy

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Newborn with white pupil or absent red reflex (urgent — ophthalmology within days)
  • Asymmetric red reflex on Bruckner test (red reflex screen by pediatrician)
  • Failure to fix and follow at age 2–3 months
  • Strabismus or nystagmus in infant
  • Family history of childhood cataract — screening required
  • Down syndrome — annual ophthalmology screening
  • Known systemic disease with cataract risk
  • Eye injury in child

Treatment Methods

01
Comprehensive pediatric ophthalmology evaluation: detailed family history, dilated fundus exam under anesthesia if needed, retinoscopy, B-scan ultrasound (rule out PHPV, retinoblastoma masquerade), measurement of axial length and keratometry for IOL calculation
02
Systemic workup: TORCH titers, urine reducing substances and galactose-1-phosphate uridyltransferase activity (galactosemia), serum and urine amino acids, karyotype, pediatric and genetics consultation as indicated
03
Surgery indications: visually significant cataract (central > 3 mm, axial, dense), nystagmus or strabismus, monocular cataract delaying visual development; perform within 6 weeks (unilateral) or 8 weeks (bilateral) of life — critical window to prevent irreversible deprivation amblyopia
04
Surgical technique: 2-port limbal or pars plana approach, anterior continuous curvilinear capsulorhexis (or vitrectorhexis in infants), lens aspiration (no phacoemulsification needed in soft pediatric lens), posterior capsulorhexis with anterior vitrectomy (mandatory in children < 5 due to inevitable capsule fibrosis and visual axis opacification)
05
IOL implantation: for children > 1–2 years (intraocular lens calculation undercorrected for expected myopic shift); for infants < 1 year, primary IOL controversial — most centers prefer aphakia with contact lens or aphakic glasses, with secondary IOL implantation at 2–5 years (IATS — Infant Aphakia Treatment Study)
06
Post-operative aphakic correction: contact lens (silicone elastomer Silsoft, gas permeable) for infants < 1 year (high power +25 to +35 D), aphakic glasses for binocular cases, secondary IOL at older age
07
Aggressive amblyopia therapy: patching of better eye (occlusion) according to age and condition, follow-up monthly initially; visual development depends critically on this
08
Lifelong follow-up: glaucoma screening (post-op pediatric glaucoma 25 percent over decades), refractive correction adjustment, posterior capsule opacification, retinal detachment, low-vision rehabilitation; multidisciplinary team (pediatric ophthalmology, optometry, special education)

Which Department to Visit?

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.