title: Have we stopped looking for a red reflex in newborn screening?
abstract: Best medical evidence indicates that surgical treatment of significant congenital cataracts is required within the first 3 months of life for optimal visual outcome. The aim of the present study was to review when the diagnosis of congenital cataracts was made in our region, by whom it was made, and the visual outcome at 2 years of age or more. This was a retrospective study in a region with a population of 546,000 and approximately 8500 births per annum, served by a single Regional Ophthalmology centre. All children under 15 years, diagnosed with Congenital Cataract over a 10-year period (1991-2002), were identified using the Hospital In-Patient Enquiry [HIPE] database. Children with cataract(s) from infancy from a congenital cause and those first presenting outside infancy but with salient clinical features indicating early cataract were included in the study. 27 cases of congenital and infantile cataract 15 (56%) males, 12 (44%) females were retrieved. 17 infants (63%) were diagnosed with bilateral disease, while the remainder were unilateral 10 (37%). Most of the cases 17 (63%) were diagnosed following presentation with parental/carer concerns about visual function (usually a squint). However only 2 of these 17 cases presented before 3 months of age. The remaining cases of congenital cataracts were diagnosed by general practitioners 8 (24%), paediatricians 4 (12%), ophthalmologists 3 (9%) or School Medical Officer (1, 3%). No case of congenital cataract was diagnosed by newborn screening examination. Six of 8 infants diagnosed with congenital cataracts before three months of age had a good visual outcome, (visual acuity < 6/24 at 2 years or more). In contrast only 3 of 19 cases who were diagnosed after 3 months of age had good visual outcomes. Despite their relative rarity, it is imperative that congenital cataracts are diagnosed and treated within 3 months of birth. The onus of diagnosis rests with newborn screening examiners at birth and with general practitioners at the 6-8 week checks. Parental concerns about a possible squint should be addressed by performing a red light reflex examination and urgent specialist ophthalmological referral if a flaw is detected.
authors.affiliation: Unified Maternity and Neonatal Services, and Department of Paediatrics & Child Health, Cork University Hospital.
authors.forename: O
authors.initials: O
authors.lastname: Sotomi
authors.forename: C A
authors.initials: CA
authors.lastname: Ryan
authors.forename: G
authors.initials: G
authors.lastname: O'Connor
authors.forename: B P
authors.initials: BP
authors.lastname: Murphy
mesh_terms: D000367:Age Factors; D002386:Cataract / Q000151:congenital / Q000175:diagnosis*; D002387:Cataract Extraction; D002675:Child, Preschool; D042241:Early Diagnosis; D005260:Female; D006785:Hospitals, University; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007494:Ireland; D008297:Male; D015997:Neonatal Screening / Q000379:methods / Q000706:statistics & numerical data*; D012189:Retrospective Studies; D013997:Time Factors; D015351:Vision Screening / Q000379:methods / Q000706:statistics & numerical data*; D014792:Visual Acuity