Congenital cataractBMJ 2011; 342 doi: https://doi.org/10.1136/bmj.d3075 (Published 27 May 2011) Cite this as: BMJ 2011;342:d3075
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Neonatal physical examination includes eye examination which is often
undertaken by a trainee doctor or a nurse practitioner prior to the
infants' postnatal discharge from hospital. The eyelid retractors are not
routinely used and the eye examination in the newborn is not an easy task.
This may partly explain delay in the diagnosis of 'not so obvious'
Russell HC, McDougall VM and Dutton GN(1) have emphasised the need
for early detection of congenital cataract and its prompt referral to the
ophthalmic team. However, the paper misses out the need for a thorough
review of the family and the prenatal history as well as the need for
undertaking a systematic search to identify the aetiology of the cataract
and the likely associations.
It is a well recognised fact that the white pupillary reflex
(Leukocoria) may be the presenting sign of a cataract; over 60% of
patients who present with leukocoria have congenital cataracts (18%
unilateral and 42% bilateral). Other causes of leukocoria included
retinoblastoma, retinal detachment, persistent hyperplastic primary
vitreous (4.2%), and Coats disease (4.2%).(2)
Prenatal history is important as the foetal exposure to radiation,
steroids and high doses of vitamin A, methamphetamine and alcohol have
been reported to cause lenticular opacities in the newborn infant.(3)
Unilateral cataracts are usually isolated sporadic incidents.
Bilateral cataracts are often associated with other diseases. The most
common etiology includes intrauterine infections (as rubella,
toxoplasmosis, CMV and HSV infections), metabolic disorders (as
galactosaemia), chromosomal anomalies as trisomy 21, musculo-skeletal
disorders as Stickler syndrome and myotonia dystrophica.(4,5,6)
One third of cataracts are not associated with any systemic or ocular
disease and may be due to occurrence of spontaneous mutations. Eleven
clear-cut cataract phenotypes have been described. Cataract may be
inherited as an autosomal dominant, autosomal recessive, or an X-linked
recessive trait; 12 loci and 15 specific genes associated with the
inherited isolated cataract have been identified to date.(7)
History of cataract in other siblings and the family members should
be sought and all close family members should be examined.
There is a great need to create awareness among the health
professionals regarding the adverse implications of delayed diagnosis of
congenital cataract on infant's developmental progress. Equally important
is the need to undertake a full metabolic, infectious, systemic, and
genetic workup to identify the cause and or/ likely associations so that
appropriate therapeutic and/or supportive measures are initiated as soon
1) Russell HC, McDougall VM and Dutton GN. Easily missed congenital
cataract.BMJ 2011; 342:d3075 doi: 10.1136/bmj.d3075 BMJ 2011; 342:d3075
2) Haider S, Qureshi W, Ali A. Leukocoria in children. J Pediatr Ophthalmol Strabismus 2008; 45(3):179-80
3) Clarke ME, Schloff S, Bothun ED. Triangular congenital cataract morphology associated with prenatal
methamphetamine exposure. J AAPOS.2009;13(4):408-9.
4) Lambert SR, Drack AV. Infantile cataracts.
Surv Ophthalmol 1996; 40,(6):427-458
5) Malathi J, Therese KL, Madhavan HN.
The association of rubella virus in congenital cataract - a hospital-based study in India. Clin Virol. 2001;23(1-2):25-9.
6) Bosch AM. Classical galactosaemia revisited.
J Inherit Metab Dis 2006;29:516-525 DOI 10.1007/s10545-006-0382-0
7) Reddy MA,12, Francis PJ, Berry B et al Molecular genetic basis of
inherited cataract and associated phenotypes. Sury Ophthalmol 2004 49(3)
Nisar A Mir
Neo>natal Intensive Care Unit,
Warrington & Halton Hospitals NHS Foundation Trust
Competing interests: No competing interests