Retinoblastoma screening rules set foundation for care

The creation of recommendations to guide familial retinoblastoma in the U.S. is an important step bu highlights the challenges of guideline development in the absence of high-quality data 

This article was reviewed by Alison H. Skalet, MD, PhD

When a group of members of the American Association of Ophthalmic Oncologists and Pathologists (AAOOP) was selected in 2015 to develop guidelines for screening children with retinoblastoma, their goal was to develop national guidelines and outline a simple, rational approach that emphasized the importance of genetic testing, according to Alison H. Skalet MD, PhD, ocular oncologist, and director, Retinoblastoma Service at Casey Eye Institute, Oregon Health and Science University, Portland, OR.

Those selected for the consensus panel were from leading centers across North America.

An initial survey of the expert panelists’ screening strategies demonstrated differences in approach, including a lack of agreement about exam frequency and the length of necessary screenings related to retinoblastoma, Dr. Skalet said.

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The results were presented to the AAOOP membership at the annual meeting in 2015 and were followed by an open discussion. Members who were present agreed that the creation of guidelines was a worthwhile endeavor, that screening based upon pretest risk stratification was reasonable, and that genetic testing was important for clarifying risk.

That legwork helped lead to the team publication of nine recommendations in Ophthalmology last year.¹ Among the recommendations are the following, according to Dr. Skalet.²

Serial dilated eye exams by an ophthalmologist are recommended for children with higher than population risk for retinoblastoma risk due to family history. All children with a family history of retinoblastoma benefit from genetic counseling and testing to clarify their risk.

Children are stratified into high, intermediate, and low-risk categories. Frequency of recommended examinations varies based upon a child’s age and level of risk, decreasing in frequency for all children as they grow older.

The recommendations went through rigorous peer-review and received endorsement from the American Academy of Ophthalmology (AAO), American Academy of Pediatrics, American Association for Pediatric Ophthalmology and Strabismus, and the American Society of Pediatric Hematology/Oncology.

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Yet since publication of the guidelines, there’s been what Dr. Skalet called an “ongoing spirited discussion” about them.

“In particular, it’s been questioned if it’s advisable to differentiate how we are screening children and what method we are using. It has also been questioned whether it is necessary to screen children beyond four or five years,” she said.

Dr. Skalet acknowledged the importance of continued review of the guidelines and pointed out that there was very little level 1 and 2 evidence from which to create the guidelines. Most often, those developing the guidelines had to use expert opinions and noncontrolled studies.

She emphasized that the development of higher-quality data would be beneficial. Dr. Skalet commented that a survey of AAOOP members is planned to gauge awareness of the retinoblastoma screening guidelines and to help define areas of agreement and disagreement. The group also is investigating the use of the AAO’s IRIS Registry for “real-world” data regarding retinoblastoma screening and outcomes in the United States.

“Publication of the U.S. guidelines has been a helpful step in improving care for children at risk for familial retinoblastoma in part because it has stimulated discussion of this important issue among experts not only in the U.S. but around the world,” Dr. Skalet said. “We agree on more than we disagree, and the attention is stimulating research efforts that will allow us to improve upon our current recommendations in the future.”

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References:

1. Skalet AH, Gombos DS, Gallie BL, et al. Screening children at risk for retinoblastoma: Consensus report from the American Association of Ophthalmic Oncologists and Pathologists. Ophthalmology. 2018;125:453-458.
2. Skalet AH. Familial Retinoblastoma Screening: When Eye Cancer Runs in the Family. https://wechope.org/ medical-care/familial-retinoblastoma-screeningapproaches-when-eye-cancer-runs-in-the-family/
Published April 15, 2019.