Congenital Cataracts: Causes and Risk Factors

Congenital cataracts (present at birth or early infancy) have diverse etiologies:

Genetic

• Autosomal dominant mutations in crystallin, connexin, or transcription factor genes.
• Family history warrants genetic counseling.

Intrauterine Infections (TORCH)

• Rubella, CMV, HSV, toxoplasmosis, syphilis.

Metabolic Disorders

• Galactosemia (galactitol accumulation)
• Lowe syndrome (OCRL mutation)
• Hypocalcemia, hypoglycemia

Syndromic Associations

• Down syndrome, Marfan, Waardenburg, Treacher Collins, Nance‑Horan.

Environmental

• Ionizing radiation, certain medications (corticosteroids), alcohol.

Urgency

Early diagnosis (red reflex screening at birth) and referral to pediatric ophthalmologist are critical. Dense cataracts require surgery within weeks to prevent deprivation amblyopia.