Early Detection Saves Lives: Primary Care, Retinoblastoma, and Second Cancers
Monday August 05, 2024
Primary care providers are pivotal in the timely diagnosis of retinoblastoma and related second cancers. They are usually the first contact for parents and survivors concerned about signs and symptoms. WE C Hope CEO Abby White explores their key role, the challenges they face in recognizing signs and securing a swift referral, and the need for education targeting primary care providers.
A fundal reflex examination is performed in a darkened room, the ophthalmoscope in one hand and a toy in the other to attract the child’s attention. The target is very helpful as no child wants to look at a bright light, but they will look at a toy – preferably something with interesting sounds and visual effects, encouraging the child to look exactly where the examiner needs them to.
Our sincere gratitude to this Rb family, who are keen to support awareness-raising activities. Their local doctor dismissed their concerns without doing a fundal reflex exam – those preventable delays have cost their son and family dearly.
Early diagnosis of retinoblastoma (Rb) and related second primary cancers is crucial to save lives and give the best chance of preserving children’s vision. Despite advances in treatment, delayed diagnosis remains a prominent barrier to effective care and best outcomes worldwide.
In our January blog, “Early Diagnosis is the Bedrock of Retinoblastoma Care”, we explored the four pillars needed to achieve routine early diagnosis of childhood eye cancer: public awareness, professional education, regular eye examinations, and prompt specialist referral. These are foundational to effective care and significantly enhance outcomes for child and family.
Early detection of warning signs is a key step towards early diagnosis. Early detection involves identifying potential signs of disease, while early diagnosis confirms the presence of the disease through clinical evaluation and testing. Primary care providers form the critical bridge from suspicion that something is wrong to specialist investigation.
Primary care providers are often the first point of contact for concerned parents and survivors. Their ability to recognize the subtle signs of retinoblastoma and second primary cancers, coupled with their willingness to refer promptly for specialist care, makes a life-changing difference.
By closing the gap between initial observation and definitive diagnosis, primary care providers ensure timely intervention, which is crucial for the patient’s optimal outcomes.
Below, we explore the challenges primary care providers and families face in identifying these cancers and securing a referral, the importance of primary care in the early diagnosis pathway, and the need for education targeting primary care.
Charlotte’s cancer diagnosis was delayed because her doctors repeatedly dismissed her mother’s concerns when they failed to see the white reflex she described. A cursory undilated eye exam is unlikely to detect leukocoria.
Challenges of Identifying Retinoblastoma
Identifying retinoblastoma in a primary care setting can be very challenging as the early signs mimic other benign conditions and are not associated with pain or other symptoms until the disease is advanced.
Leukocoria (white pupil) and strabismus (turned eye) are the most common early signs of Rb, but they are also signs of less serious conditions, and even transient observations in healthy eyes. This makes it difficult for primary care providers to discern when the child may have a potentially life-threatening disease.
Leukocoria can be fleeting, only visible under certain lighting when the child is in a specific position (e.g. looking up while breastfeeding or lying on a changing mat under a dimmed light), or in photos when the flash enters the eye at a specific angle. Strabismus is often dismissed as a normal developmental phase in young children. Both signs can be easily overlooked or misinterpreted, leading to delays in diagnosis.
Two common scenarios highlight these challenges.
Seeing the Signs
The signs a parent observes at home, such as a white pupil glow or an intermittent eye turn, may not be easily seen in the doctor’s office. Like many children, this was Charlotte’s story.
The retina (the light sensing layer of the eye) develops in a circular pattern outwards from its centre at the back of the eye. Tumours grow from these new cells on the peripheral retina. They will be very hard to view with a cursory eye exam when the pupil is not dilated.
Add to this the child’s potential stress compared to their relaxed state at home. This makes it hard for the primary care provider to identify the warning signs during a brief examination.
This diagram shows various structurs within the eye, including the retina, the light-sensitive inner lining of the eye that grows from its centre at the back of the eye forward to the ora serrata at the front of the eye. The ora serrata is a jagged boundary where the retina transitions into the ciliary body, which surrounds the iris (the coloured part of the eye). Looking at the eye from the side, as in this diagram, the ora sorrata is located roughly at the level where the white part of the eye (sclera) begins to curve more steeply.
“Don’t Worry – this is Normal!”
Worldwide, when parents bring their concerns to a primary care provider, they are often dismissed without a thorough eye exam. Most are told that what they see is normal for a growing baby. This was Jake’s story.
The assurance and dismissal of parent concerns may be repeated for months – even several years, often reinforced by multiple doctors. This causes critical delays in specialist referral, and significant mental anguish among parents that remains long after treatment ends.
Rarity Complicates Early Detection
Retinoblastoma is a rare cancer. Most primary care providers will encounter few, if any, children with eye cancer in their career, leading to low awareness and experience with its signs.
This rarity is compounded when considering second primary cancers (SPCs). Only 40% of individuals with retinoblastoma have the heritable RB1 gene mutation that poses a risk of SPCs, and among those, approximately 33% will develop one or more related second cancers in their lifetime. This group includes a very rare population at risk for RB1-related second cancers who did not have primary retinoblastoma.
Consequently, awareness and understanding of second primary cancer risk is low even among general and paediatric cancer specialists, ophthalmologists, and survivors themselves.
When signs and symptoms arise, a parent or survivor’s knowledge may be the only guidance for the primary care provider. Patients rely on the provider’s willingness to listen and work with them to ensure effective care. This is particularly concerning when there is no continuity of primary care.
These barriers highlight the critical need for improved education and guidance resources targeting primary care providers to ensure timely, accurate diagnosis and swift life-saving treatment.
Educational Imperatives in Primary Care
Retinoblastoma
Primary care providers include any health care provider who may be the first trained health professional from whom a person seeks advice. For example, General Practitioners (GP/family doctor), paediatricians, midwives, child health nurses, optometrists, and emergency department staff.
This varied group of professionals are often the first point of contact for parents concerned about their child’s health or the appearance of their eyes. They therefore play a pivotal role in early detection.
For example, Jaymee’s health nurse facilitated her referral when her mum raised concerns about her eyes. Daisy’s Emergency Department visit for a possible eye infection revealed her cancer. Amir’s cancer was found by his mother’s optometrist, who swiftly referred him to expert care.
Education across different fields of healthcare is vital to ensure all primary care providers can recognize and respond quickly to the early warning signs of retinoblastoma.
Fundal (red) reflex eye screening is crucial to identify signs of retinoblastoma and other potentially blinding childhood eye disease early. This is better for the child than relying on parents to notice and respond to changes in the eye – particularly as parent concerns are so frequently dismissed.
The Arclight ophthalmoscope and similar devices are instrumental in this global endeavour. Training with the low-cost, high-tech portable Arclight puts eye screening skills in the hands of diverse primary care providers, from community health and immunization nurses to midwives and school nurses.
Information about leukocoria, strabismus and referral actions included in Mother and Child Health (MCH) booklets also raises awareness among parents and primary care providers across varied disciplines. These resources are vital for increasing early detection and prompt referral.
The following resources detail Rb signs, early detection strategies, and referral actions. They will help equip primary care providers to recognize and promptly refer children with potential retinoblastoma.
In the following video, can you identify which findings indicate the child needs a specialist referral? Answers are shown after each image is presented – test begins at 2:00.
The Arclight and Fundal Reflex Test: Shining the Light on Retinoblastoma
Read more from Dr Andrew Blaikie, ophthalmologist and clinical lead for the Arclight Project at the University of St Andrews, Scotland.
When ‘Something’ Looks the Same As ‘Nothing’: Strabismus, Leukocoria and Childhood Eye Cancer
Read more about the two most common and often confusing early signs of retinoblastoma, discover which of the four children pictured above had cancer, and explore the key question – when should parents and doctors be concerned?
If In Doubt, Check It Out: Common and Not-So-Common Signs and Symptoms of Retinoblastoma
Read more about the varied signs and symptoms that may lead to a diagnosis of childhood eye cancer.
Both articles by Sandra Staffieri, Retinoblastoma Care Co-ordinator at the Royal Children’s Hospital, Melbourne, Australia.
Retinoblastoma Awareness, Screening and Early Detection at One Rb World
Watch the sessions from One Rb World 2017, 2020, and 2021 meetings.
Second Primary Cancers
Access to general childhood cancer survivorship care is limited for individuals with the RB1 gene mutation. Few services provide lifelong oncology care tailored to the specific needs of retinoblastoma survivors.
Though the risk of second primary cancers has been documented for decades, no follow-up care recommendations or screening protocols have been developed to help identify these cancers early.
Globally, the low investment in retinoblastoma-specific survivorship care makes it difficult to educate patient families, their primary care providers, and general oncology professionals. Patients struggle to advocate for themselves. Primary care providers also encounter barriers to effective care due to low understanding of the risks posed by RB1, and lack of consistent, coordinated retinoblastoma-specific survivorship care.
These gaps highlight the critical need for retinoblastoma survivors to have continuous primary care with a named doctor they can trust, and for that doctor to understand the survivor’s ongoing cancer risk.
Continuity of care and effective communication between the primary care provider and survivor are vital to manage the lifelong risks and impacts, and ensure swift action when unexplained signs and symptoms arise,
Together, the well-informed survivor and primary care provider can navigate proactive care, investigate concerns quickly, and identify cancer at the earliest possible stage.
The following resources focus on RB1 lifelong impacts – specifically second cancer risks, and early detection. We hope these tools will help primary care providers feel more informed and equipped to support a patient with retinoblastoma throughout their life.
Screening for Survivors - Speakers, Talks, and Timiings.
Question
What recommendations do you have for long term follow up care and screening in RB1 mutation carriers and children treated with chemotherapy / radiotherapy? How can you help us educate our primary doctors so they take us seriously, and what can we do if we have no access to a survivor / follow-up program?
Session Lead
Dan S. Gombos MD FACS Professor & Chief, Section of Ophthalmology, MD Anderson Cancer Center Clinical Co-Director, The Retinoblastoma Center of Houston
1:25 – Second Tumors in the RB Population: Which Tumors and When?
Ruth Kleinerman, M.P.H, Ph.D. Epidemiologist, National Cancer Institute, NIH, Rockville, Maryland Deputy Branch Chief, Radiation Epidemiology Branch, NCI, NIH, Rockville, Maryland.
9:30 – Cancer Survivorship Clinic: Who Should be Referred and Why?
David R. Freyer, D.O., M.S. Director, Survivorship & Supportive Care Program, Children’s Center for Cancer and Blood Diseases, Children’s Hospital Los Angeles, Los Angeles, California Professor of Clinical Pediatrics and Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California.
23:40 – Brain Tumors: Who, When and How to Screen.
Katherine Paton, M.D., FRCSC Clinical Professor of Ophthalmology, The University of British Colombia, Vancouver General Hospital; British Colombia Children’s Hospital, Vancouver, Canada Head, Ocular Oncology & Director of Diagnostic Ophthalmic Ultrasound Imaging, University of British Columbia, Vancouver, Canada.
39:20 –The Adult with Distant History of Retinoblastoma: Practical Tips for Your Primary Care Provider
Dan S. Gombos MD
Second Primary Cancers
Carriers of an RB1 mutation, and children treated with chemotherapy or radiation have an increased risk of developing second primary cancers.
Symptoms of Second Primary Cancers
Parents, survivors and their primary care providers must be aware of risk for second cancers associated with retinoblastoma, and their signs and symptoms.
Living with the Retinoblastoma Cancer Syndrome
Written by Rb survivor and WE C Hope CEO, Abby White, with contributions from survivors around the world.
Part 1: Understanding the Risks and Lifelong Care
Read more about the risk and who it affects, the challenge of establishing personal risk, provision of lifelong follow up care, and early detection of second cancers.
Part 2: Risks, Impacts, Challenges and Opportunities
Read more about key survivor challenges, from working with doctors who do not understand the risk, to psychological impacts of Rb, and the need for more effective care.
Prompt Referral is Paramount
Prompt referral is critical when primary care providers encounter potential signs of retinoblastoma or a second primary cancer. Whether observing signs on examination, or listening to the parent or patient’s concern.
Delays in care have severe consequences.
A parent or patient may raise concerns and be repeatedly dismissed, so the cancer continues to grow freely. By the time signs are obvious, an urgent referral is scrambled, and the diagnosis made, life is in serious danger. Treatment requires more complex, invasive, expensive therapy, and there are fewer options. This was Ryu’s story.
The experience can significantly impact quality of life for the patient and their entire family. This is the too-common reality of not listening to parent and patient concerns. For too many children and adults affected by retinoblastoma, those delays become life-threatening and fatal.
Conversely, a vigilant primary care provider may observe concerning signs during a routine exam, and promptly refer to a specialist. This was Chloe’s story. Providers can listen to parent and patient concerns, look at parents’ photos of the child’s glow or turned eye, or read information offered about the concerning signs and symptoms. Sometimes, they can work together to capture the glow during the child’s office eye exam. This was Thea’s story.
The speed of detection and referral has a profound impact on treatment options and outcomes. With a cautious approach and prompt referral, primary care providers set their patients up for the most timely, appropriate care, ultimately saving lives and preserving quality of life.
Chloe’s cancer was detected by her observant doctor, before her mother had a chance to ask about the white eye glow, leading to a swift diagnosis that helped to save her precious life and sight.
Thanks to her observant doctor, Chloe is growing up beyond retinoblastoma. Now she needs her doctors to understand about the ongoing risks of second cancers, so any unusual signs and symptoms can be promptly investigated – just like her original eye cancer.
Recommendations for Referral
Do not dismiss subtle signs or vague symptoms.
Retinoblastoma specialists advise primary care providers to err on the side of caution and:
- Refer to paediatric ophthalmology for an eye exam if:
- Parents report seeing:
- A white pupil (leukocoria).
- Absence of red-reflex in flash photos.
- Misaligned eyes.
Even if transient and not evident on office examination, and regardless of the child’s age.
- The child has:
- Abnormal fundal (red) reflex in one or both eyes on exam, using the technique demonstrated in the video above.
- Misaligned eyes (strabismus), regardless of age.
- Different coloured irises (heterochromia).
- A red or swollen eye.
- Unequal or misshapen pupils.
- Watering eye with sensitivity to light and pain.
- New vision loss (this may be indicated by changes in behaviour such as reluctance to crawl or walk, fear of descending steps, clumsiness etc.).
- There are any other concerns about either eye,
- Refer to appropriate specialist for investigation when at-risk survivors have any unexplained symptom lasting more than two weeks, or any neurological symptom lasting more than one week.
- Communicate directly with the specialist team when making the referral, to confirm its urgency is understood.
These actions are advised even if signs described by the parent or survivor are not visible during the office exam.
On September 2, we will focus on the referral process, including who should be referred, where to, how fast, and how to support the referral process from primary care through to diagnosis and specialist cancer care.
Prioritizing Primary Care
Primary care providers are key to the early detection of retinoblastoma and second primary cancers. Diagnosis when tumours are smaller saves lives and increases treatment options. For retinoblastoma, it raises the potential to save sight – especially important when cancer affects both eyes.
Chloe, Thea, and children like them around the world are testament to the power primary care providers hold to shape cancer care and save lives.
We need global collaboration to develop effective primary care practices for early detection and diagnosis of retinoblastoma and second primary cancers. By working together, medical professionals, researchers, survivors, parents, and other patient advocates can address the challenges of early diagnosis, including disseminating knowledge, developing appropriate screening programs, and improving referral pathways.
We invite everyone in our retinoblastoma community to join us at the 7th One Rb World conference this October 15-17 in Honolulu, Hawaii and virtually, where we will continue these vital conversations. In-person registration ends in one month, so register today to secure your seat in the room! Virtual registration will remain open until October 13. Together, we can move our world closer to the day when every child and survivor receives the timely, effective care they urgently need.
About the Author
Abby’s father was diagnosed with bilateral retinoblastoma in Kenya in 1946. Abby was also born with cancer in both eyes. She has an artificial eye and limited vision in her left eye that is now failing due to late effects of radiotherapy in infancy.
Abby studied geography at university, with emphasis on development in sub-Saharan Africa. She co-founded WE C Hope with Brenda Gallie, responding to the needs of one child and the desire to help many in developing countries. After receiving many requests for help from American families and adult survivors, she co-founded the US chapter to bring hope and encourage action across the country.
Abby enjoys listening to audio books, creative writing, open water swimming and long country walks.
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