An expert panel has developed surveillance guidelines for children at risk for retinoblastoma, the most common intraocular cancer in childhood.
Screening Children at Risk for Retinoblastoma: Consensus Report from the American Association of Ophthalmic Oncologists and Pathologistshas been endorsed by the Academy and is published in the journal Ophthalmology,http://www.aaojournal.org/article/S0161-6420(17)31784-0/fulltext.
Retinoblastoma affects one in 15,000-18,000 live births. Children who have a family history of the disease are at higher risk of developing malignancy and should be followed so tumors can be detected when they are small. Studies have shown that early diagnosis can increase survival and vision outcomes as well as decrease the need for treatments such as chemotherapy and radiotherapy.
The panel that developed the consensus report included experts in ophthalmic oncology, pathology and genetics from retinoblastoma referral centers throughout the U.S. They developed screening recommendations for children from birth to age 7 who are at risk for retinoblastoma. “At risk” was defined as having a parent, sibling or first- or second-degree relative with the disease. Genetic testing is important in children with a family history to determine their risk for retinoblastoma, according to the statement. If an RB1 mutation is found, the risk is near 100%.
The group developed eye examination schedules based on age and risk category. It noted that the schedules are general guidelines for exams when no concerning lesions have been noted. Recommendations are made regarding the use of anesthesia during exams, but decisions should be left to the clinician after discussion with the child’s family.
Panel members used an evidence-based system to grade recommendations, which included the following:
- Serial dilated fundus examination by an ophthalmologist with experience in retinoblastoma is recommended for all children at risk for retinoblastoma above the population risk.
- Frequency of examinations is based on expected risk for RB1 mutation.
- Genetic counseling and testing clarify the risk for retinoblastoma in children with a family history of the disease. RB1 mutation carriers should be followed indefinitely, with exams every one to two years after age 7.
- Children at high risk for retinoblastoma require more frequent screening, which may include examinations under anesthesia.
