Alarmed at anecdotes from parents that cataracts had been missed in children, Cataract Kids Australia has partnered with orthoptists to identify gaps compromising early childhood cataract diagnosis to support policy change.
Cataract Kids Australia (CKA) is a registered charity for children affected by cataract. Its threefold mission targets families, healthcare professionals and researchers. In this article, we describe a common problem reported by families of babies and children with cataract, and how research collaboration between CKA and clinician-researchers in orthoptics is yielding valuable data that we hope will help drive meaningful change in clinical practice.
‘Missed diagnosis’ – sadly, this phrase resonates powerfully with many parents of children with cataract. It is well-established that treatment outcomes for childhood cataract are severely impacted by delays in presentation, diagnosis, and treatment.
After CKA was established in 2017, it became clear to director Dr Megan Prictor – a parent of a child with cataracts – that parents, in sharing their experiences in online discussion forums, face-to-face events and direct contact with the charity, were repeatedly describing that their child’s cataracts were ‘missed’ or ‘found late’.
Because late diagnosis of a unilateral congenital cataract can lead to irreversible amblyopia, decision-making about whether to proceed with lensectomy is complex and difficult. When diagnosis and treatment are delayed, the prognosis for visual rehabilitation after surgery can be very uncertain. Hence, it was alarming when CKA noted growing anecdotal evidence that cataracts had been missed.
Parents said that newborn red-reflex tests had been cursorily performed or skipped altogether; that their sense of something being ‘off’ with their baby’s eyes was repeatedly rebuffed by health professionals; and that they were told their baby’s misaligned eyes were ‘normal’ until the child turned one year of age.
In response, CKA formed a working group involving orthoptists, ophthalmologists and consumers (parents) with the ultimate aim of improving timely diagnosis of babies and children affected by cataract. Its first task was gathering more data about the problem.
In 2019, the organisation conducted an online survey to explore the referral pathway that led to the diagnosis of childhood cataract as reported by parents and caregivers. Of the 84 responses received from across Australia, the key findings were:
• Parents were most likely to be the first to notice a problem, prompting review by a healthcare professional
• 24% of children diagnosed with cataract were under 8 weeks of age
• 25% of parents did not know whether the red-reflex test had been performed on their baby in hospital or at the 6-week well-baby check.
Amongst the free-text responses, whilst many parents received prompt and appropriate diagnosis and referral, others wrote of being told to ‘wait and see’ (after reporting an eye turn/squint); or of unsuccessfully raising their concerns with multiple health professionals over many weeks.
Notably, 39 (46.4%) parents were the first to notice a problem with their child’s eyes or vision. This could suggest that either:
1. The cataract was not present at the time of neonatal red-reflex screening, or
2. The red-reflex test was either not done; not done by an adequately trained healthcare provider; or the diagnosis was missed.
Considering these preliminary findings, CKA – together with research orthoptists at the Royal Children’s Hospital (RCH) in Victoria – initiated an audit of all children diagnosed with cataract under the age of 5 years from January 2014 to December 2019. The project aims to 1) characterise the presentation factors and referral pathway; and 2) assess their association with visual outcomes.
Identifying any gaps that compromise early diagnosis will support policy change, and the implementation of revised systems and processes. How effective is the red reflex screening at birth? Which children are being missed and why?
As we enter the final stages of data collection, to date, more than 150 patient records have been reviewed that met the inclusion criteria. We look forward to analysing the data and determining whether diagnosis and treatment is as timely as it plan to replicate the audit in other children’s hospitals in Australia.
This project is one of several workstreams underway with the CKA working group to improve diagnosis of childhood cataract and other paediatric eye conditions. Other activities include engagement with: state government policymakers about vision screening; national media to promote public awareness; and organisations representing healthcare professionals to ensure relevant knowledge and adequate skills development amongst clinicians.
Taken together, this work is a brilliant example of multidisciplinary advocacy coupled with research – in which orthoptists take a lead role.
ABOUT THE AUTHORS: Dr Sandra Staffieri BAppSc(orth) PhD is the Retinoblastoma Care Co-ordinator/Senior Clinical Orthoptist within the Dept of Ophthalmology at RCH, Research Fellow, Clinical Genetics Unit at the Centre for Eye Research Australia, and an Hon. Fellow, University of Melbourne – Medicine, Dentistry and Health Sciences. Dr Megan Prictor (LLB(Hons), PhD) is the Founding Director of CKA, a Founding Member of the Paediatric Vision Impairment Alliance, and an Editor with Cochrane Eyes and Vision.
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