• Written By:
    Ocular Pathology/Oncology, Retina/Vitreous

    An expert panel of ocular oncologists, pathologists and geneticists has established guidelines that could facilitate care and eliminate unnecessary exams for children at risk of retinoblastoma (Rb).

    Study design

    The recommendations were developed over a 2-year period by physicians from Rb referral centers in the U.S. and Canada. Led by members of the American Association of Ophthalmic Oncologists and Pathologists (AAOOP)—Alison Skalet, MD,PhD, from the Casey Eye Institute, Oregon Health & Science University and Patricia Chévez-Barrios, MD, from Houston Methodist Hospital—the effort was endorsed by the American Association for Pediatric Ophthalmology and Strabismus (AAPOS), the American Academy of Ophthalmology (AAO), the American Society of Pediatric Hematology/Oncology (ASPHO)  and the American Academy of Pediatrics (AAP). 

    The panel defined children at risk for Rb as those with an affected parent, sibling, or first- or second-degree relative.

    Outcomes

    The panel established the following guidelines:

    • At-risk children should undergo genetic testing at a Clinical Laboratory Improvement Amendments–certified (or equivalent) laboratory with Rb experience.
    • The child’s age and risk level should determine the frequency of serial dilated fundus exams. These exams should be performed by an Rb-experienced ocular oncologist, pediatric ophthalmologist, retina specialist or comprehensive ophthalmologist.
    • Newborns at high (>7.5%) risk of Rb should be screened every 2 to 4 weeks during their first 2 months of life, whereas newborns with intermediate (1%-7.5%) or low (<1%) risk should be screened monthly.
    • Necessary exam frequency declines as the child ages and may be discontinued at age 7 for children without an RB1 mutation
    • Children who carry an RB1 mutation should be screened indefinitely, every 1 to 2 years.

    Limitations

    These guidelines may be difficult to follow in regions with limited access to genetic testing and counseling, or pediatric anesthesia.

    Clinical significance

    The article defines risk categories (high, intermediate, low, and general population) for families affected by Rb. This information can help clinicians and families understand a child’s Rb risk and establish an appropriate exam schedule. The recommendations may also limit unnecessary exams for children at low risk for Rb.