Health Science Reviews

By Erin Layne Fischer

Imagine being told that your child has a rare malignant eye cancer and finding out that it could
have been caught earlier if you had known what to look out for?

Retinoblastoma (Rb) is the most common paediatric eye cancer with 8,000 incident cases
worldwide annually and approximately 90% of these are attributed to low- and middle-income
countries (LMICs). Rb can be cured if caught early enough, but in LMICs late diagnosis is all
too common – leaving one of the only options being removal of the eye. One overlooked reason
for late diagnosis? Parents are often unaware of the signs – or science – behind the condition.

What was done and how did they do it?
A cross-sectional study by Xiao et al. (2020) conducted at Zhongshan Ophthalmic Center,
China, from December 2017 through December 2018 aimed to evaluate parents’ knowledge of
screening and genetic testing of Rb and whether this potentially related to demographics,
clinical features and socioeconomical factors.

Face-to-face interviews were conducted with 126 parents of children with Rb. A questionnaire
of 7 questions drawing on global screening guidelines was used with factors such as education
level, household income and demographics collected during the interview and clinical data
retrieved from medical records. Table 1 contains the questions posed in the study. Scoring
criteria for each question was as follows: -1 for an incorrect answer, 0 for “I don’t know” and
+1 for a correct answer.

Table 1. Questions asked during the Xiao et al. (2020) study (shaded cells indicate correct
answers). Table adapted from Xiao et al. (2020).

What did they find?
Results were sobering. Only 37 (29.4%) parents answered all 7 questions correctly and nearly
40% of participants were unaware that a sibling may also be at risk. Given the potential
heritability for Rb, being aware of the risk posed to siblings of patients can save lives. Parent
knowledge was positively linked to education but not with patient laterality, sex or household
income.

Unsurprisingly, physicians and the internet were cited as key information sources to parents.
The internet has opened new avenues for parents: they may identify signs of Rb in their
children, share opinions on treatments and even find community online. Despite this,
physicians remained the primary information source for parents and highlights the importance
of doctor-parent interactions.

What does this mean?
A silver lining: parents who scored higher on the questionnaire were more likely to pursue
follow-up genetic testing. This is an important result given that testing not only guides
treatment, but helps protect siblings and future children as if a variant is detected in germline
cells, Rb may have been inherited and is a potential risk for siblings of the patient.

The takeaway: medical breakthroughs carry little weight when those that stand to benefit don’t
understand them. Clear, compassionate communication could make all the difference.

Because when it comes to retinoblastoma, what parents don’t know can hurt.
Reference:

Xiao, W., Ji, X., Ye, H., Zeng, H., Gao, Y., Chen, R., Chen, X., Mao, Y. and Yang, H., 2020.
Parent Knowledge of Screening and Genetic Testing in Retinoblastoma. Journal of
Ophthalmology, 2020(1), p.3839792.