Congenital Cataract

Lamellar cataracts are the most common form in congenital/infantile cataracts

• Opacification within specific lens zones

Causes (and presenile cataract)

• Isolated: usually autosomal dominant

• Chromosomal:

  • Trisomies: Downs, Edwards, Patau

    • Downs is associated with ‘cerulean’ cataracts (small blue-white peripheral cortex opacities)

  • Turners

• Craniosynostosis: premature closure of 1 or more cranial sutures

  • Apert

    • Syndactyly

  • Crouzon

    • The most common craniosynostosis
    • Autosomal dominant
    • Mutation in the FGFR2 gene on chromosome 10

  • The most common strabismus in craniosynostosis syndrome is V-pattern exotropia often with inferior oblique overaction

• Incontinentia pigmenti

• Myotonic dystrophy: ‘Christmas tree’ cataract and associated with low IOP (possibly ciliary body detachment)

• Marfan’s

• Alports: a typically X-linked recessive mutation in basement membrane synthesis (COL4A5 gene). Ie. only males tend to develop renal failure. Features: glomerulonephritis (with haematuria), sensorineural deafness and eye abnormalities

  • Dot and fleck retinopathy
  • Anterior lenticonus (bilateral): oil droplet appearance on retinoscopy
  • Posterior polymorphous dystrophy
  • Oil droplet cataract
  • (posterior lenticonus can be X-linked or dominant inherited, presents with cataract in childhood, often unilateral and tends to affect males more than females. Can be associated with Alport’s, Duanes, Lowe’s syndrome)

• Anterior segment dysgenesis

• Metabolic disorders: Fabry disease, Wilson disease, Lowe’s syndrome (‘thin disciform’ cataract)

  • Lowe syndrome: rare, X-linked disease caused by reduced activity of phosphatidylinositol (4,5) bisphosphate 5 phosphatase. Also associated with glaucoma, corneal/conjunctival keloids, hypotonia at birth, renal tubular acidosis (Fanconi syndrome)

• Endocrine: diabetes mellitus, hypoparathyroidism (‘Christmas tree’ cataract)

• TORCH infections: toxoplasma, rubella, CMV/herpes group, syphilis, measles, polio, influenza

• Trauma, drugs