Have we stopped looking for a red reflex in newborn screening?

O Sotomi1, C A Ryan, G O'Connor

  • 1Unified Maternity and Neonatal Services, and Department of Paediatrics & Child Health, Cork University Hospital.

Insights

Early diagnosis of congenital cataracts within 3 months of birth is crucial for optimal vision. Delays in diagnosis, often due to parental concerns rather than screening, significantly worsen visual outcomes in infants.

Area of Science:

  • Ophthalmology
  • Pediatric Medicine
  • Public Health

Background:

  • Congenital cataracts require early surgical intervention for best visual outcomes.
  • Timely diagnosis and treatment are critical for preventing long-term visual impairment in infants.

Purpose of the Study:

  • To review the timing and source of congenital cataract diagnoses in a specific region.
  • To evaluate the visual outcomes at 2 years or more in relation to diagnostic timing.

Main Methods:

  • Retrospective study of children under 15 diagnosed with congenital cataracts over 10 years (1991-2002).
  • Data collected from a Regional Ophthalmology Centre serving 546,000 population.
  • Inclusion criteria: congenital or infantile cataracts, presenting in infancy or with early clinical features.

Main Results:

  • 27 cases identified; 17 (63%) diagnosed after parental concerns, only 2 before 3 months.
  • General practitioners diagnosed 24%, pediatricians 12%, ophthalmologists 9%. No diagnoses via newborn screening.
  • Infants diagnosed before 3 months had better visual outcomes (6/8 good) compared to those diagnosed later (3/19 good).

Conclusions:

  • Congenital cataracts must be diagnosed and treated within the first 3 months of life.
  • Newborn screening and 6-8 week checks by general practitioners are vital for early detection.
  • Parental concerns about vision, like squint, warrant red light reflex examination and prompt ophthalmological referral.