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
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.