FFinalistSouthampton · 2027
Ophthalmology
AKT · Ophthalmology/Lenslow yield

Congenital cataract

Lens opacity present at birth (genetic, or intrauterine infection — TORCH, esp. rubella; metabolic)

Overview

Lens opacity present at/near birth — a key cause of an absent red reflex / leukocoria found on the newborn and 6-week checks. Causes include genetic (often autosomal dominant), intrauterine infection (congenital rubella, other TORCH), and metabolic disease (galactosaemia). Needs urgent referral: early surgery prevents irreversible deprivation amblyopia.

Recognise

  • Absent or abnormal RED REFLEX / white pupil (leukocoria) on newborn or 6–8-week examination
  • White pupil, nystagmus, squint or failure to fix-and-follow
  • Associations: congenital rubella (+ deafness, cardiac defects), galactosaemia, Down syndrome, genetic

Red flags

  • Leukocoria → must exclude RETINOBLASTOMA (the sight- and life-threatening cause) — urgent same-day referral
  • Bilateral dense cataracts → urgent surgery window to prevent deprivation amblyopia

Differentials & how to tell them apart

Retinoblastomaleukocoria from a retinal tumour — the must-not-miss; calcification on USS, refer same-day
Retinopathy of prematuritypreterm, oxygen exposure, abnormal peripheral retina
Persistent fetal vasculature / Coats diseaseother causes of leukocoria on imaging
Congenital cataract — leukocoria (white pupil)

Congenital cataract — leukocoria (white pupil)

Iceclanl / CC BY-SA 4.0 — Wikimedia Commons

Investigations

Red-reflex test; urgent paediatric ophthalmology. Work-up for cause: TORCH screen, galactosaemia/metabolic tests, genetics.

Management

Urgent paediatric ophthalmology + early surgery (prevent deprivation amblyopia)

  1. 1Any absent red reflex/leukocoria → urgent referral to paediatric ophthalmology to identify the cause.Gate: Leukocoria must be assumed to be RETINOBLASTOMA until excluded — same-day pathway, not routine
  2. 2Early lensectomy for visually significant cataract (the critical period for visual development is short), then optical correction (contact lens/IOL) and amblyopia management. Investigate and treat the underlying cause.
Treat underlying metabolic cause — e.g. galactosaemia — dietary management

Key points

The red-reflex check exists to catch this and retinoblastoma. White pupil in an infant = urgent, never reassure-and-review.

Monitor & prognosis

Amblyopia therapy and refractive correction long-term.

Depends on timing — early surgery is vision-critical.

Source: RCOphth; NIPE newborn screening; cross-ref child_health retinoblastoma