Screening for Retinoblastoma: An Evidence Review of The Validity and Use of The Red Reflex Test

Abstract

Background

Retinoblastoma is the most common intraocular malignancy of childhood, the most common presenting signs of which are leucocoria and strabismus. In Ireland, there are on average less than 5-7 cases annually. Early detection of this sight and life-threatening malignancy is important to enable urgent specialist ophthalmology referral for assessment. An evidence review was sought by the Health Service Executive Steering Group for the Revised Child Health Programme to examine the validity and use of the red reflex test in Ireland and internationally as a screening test for retinoblastoma.

Methods

An electronic literature search was conducted to identify relevant peer-reviewed publications using the database Pubmed. A hand search of reference lists of suitable articles was conducted to check for additional material. Publications pertaining to national and international retinoblastoma screening practices were sourced via internet searches using Google. The relevant grey literature was explored.

Results

There is very limited data on the validity of the red reflex test as a screening test for retinoblastoma. Despite potentially raising a high proportion of false positive results, it is a low-cost, non-invasive, quick and acceptable test. In Ireland and the UK, retinoblastoma is universally screened for using the red reflex test within 72 hours of birth and at 6-8 weeks of age. Detection of a white, absent or asymmetrical red reflex prompts urgent referral to a specialist ophthalmology service. Many cases of retinoblastoma in developed countries are brought to clinical attention after an eye abnormality is noticed by a parent.

Conclusions

The red reflex test is a valuable screening tool which is used internationally as part of newborn screening for eye pathology including retinoblastoma. The evidence synthesised in this review will inform educational initiatives in Ireland to improve awareness and detection of this malignancy among healthcare providers and parents.

Key messages

Early detection of retinoblastoma is important to enable urgent specialist ophthalmology referral for assessment.
The red reflex test is a valuable screening tool which is used internationally as part of newborn screening for eye pathology including retinoblastoma.

DOI: https://doi.org/10.1093/eurpub/ckaa166.911

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