Practice Easily Missed?

Congenital cataract

BMJ 2011; 342 doi: http://dx.doi.org/10.1136/bmj.d3075 (Published 27 May 2011) Cite this as: BMJ 2011;342:d3075
  1. Heather C Russell, specialist registrar in ophthalmology1,
  2. Valerie McDougall, general practitioner2,
  3. Gordon N Dutton, consultant ophthalmologist3
  1. 1Princess Alexandra Eye Pavilion, Edinburgh EH3 9HA, UK
  2. 2MacLean Medical Practice, Glasgow G44 3QG, UK
  3. 3Royal Hospital for Sick Children, Glasgow G3 8SJ
  1. Correspondence to: H C Russell heatherrussell74{at}gmail.com

Case scenario

A mother brings her 8 week old baby to her general practitioner for her 6-8 week child health surveillance check. At the baby’s initial neonatal hospital check the doctor had difficulty performing the red reflex examination owing to neonatal eyelid swelling, but took no further action. The general practitioner cannot detect the red reflex in the right eye so makes a direct referral to the ophthalmologist that day by telephone. The baby is seen the following day and a cataract in the right eye is diagnosed. Cataract surgery is performed four days later.

Congenital cataract is an important preventable cause of visual impairment and blindness in childhood. Advances in surgical management and visual rehabilitation mean that early diagnosis is vital to optimise visual outcome and prevent irreversible visual impairment.

How common is congenital cataract?

  • In the United Kingdom the incidence of detected cataract of congenital origin affecting vision has been estimated to be 2.49 per 10 000 population by age 1 year

  • Owing to some delayed diagnoses, the incidence increases to 3.46 per 10 000 population by age 15 years. This equates with 200-300 children being born with congenital cataract each year in the UK1

Why is congenital cataract missed?

In ideal conditions, examination for the red reflex by an experienced practitioner readily identifies congenital cataract; however, its effectiveness as a screening tool has yet to be formally evaluated. A national UK study assessing all diagnoses of congenital cataract during one year found that less than half were detected at either the newborn or 6-8 week examinations (35% at the newborn examination and a further 12% at the 6-8 week examination).2 A more recent regional study from the Republic of Ireland found that over a 10 year period, none of the 27 cases of congenital cataract was detected at the neonatal check and only 24% were detected by the general …

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