US retinoblastoma guidelines released

Advice recommends genetic counselling and testing for children with a family history of eye cancer


Guidelines for the most common eye tumour affecting children have been released in the US.

The recommendations, which are published in Ophthalmology, were developed over a two-year period by ophthalmologists, pathologists and geneticists.

The guidelines include ophthalmic screening for all children at risk of retinoblastoma above the population risk. Genetic counselling and testing for children with a family history of the disease is also suggested.

It is recommended that those who are at the highest risk of developing retinoblastoma receive more frequent screening.

Screening should take place from birth to the age of 7 years, and longer for children with a RB1 mutation.

The authors emphasised that early detection of retinoblastoma is critical to achieving the best outcomes for vision and survival.

“The goal of these screening guidelines is to educate primary care providers and ophthalmologists and to optimise care by creating a more uniform approach to care for children with family history of retinoblastoma, ensuring that children receive timely and appropriate genetic counselling, testing, and screening for familial retinoblastoma,” they concluded.