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.