Retinoblastoma affects nearly 350 individuals each year in the United States. Genetic counseling and testing would help clarify risks of children developing eye cancer. A guideline to screen for eye tumors affecting children were developed by leading pathologists, ophthalmologists and genetics in the U.S. Detecting retinoblastoma at the earliest could save the lives and vision of many children. The guidelines are published online in Ophthalmology, the journal of the American Academy of Ophthalmology.
Retinoblastoma affecting children can have hereditary or non-hereditary causes. In case of hereditary retinoblastoma, retinal tumors are developed in both the eyes which can be cured on early diagnosis.
Ophthalmologist Alison Skalet, of the Casey Eye Institute in Portland when looking for an optimal screening strategy for her own patients found little published guidance and initiated the development of these guidelines.
Dr. Skalet and Patricia Chevez-Barrios, ophthalmologist and pathologist from Houston Methodist Hospital, led members of the American Association of Ophthalmic Oncologists and Pathologists, and a team of experts to devise these guidelines. The American Association for Pediatric Ophthalmology and Strabismus, the American Academy of Ophthalmology, and the American Academy of Pediatrics also contributed to this project.
These guidelines fill a knowledge gap among ophthalmologists and other health care professionals in the U.S. regarding the risk of inherited retinoblastoma and the best practices for screening examinations. It is anticipated that they will also influence care in other countries.
The guidelines provide a general framework for care that can be modified based on local resources, and provider and parental preferences. Resources to provide pediatric anesthesia and genetic testing may be limited in many developing countries, so the guidelines offer direction in cases when these are unavailable.
Dr. Chevez-Barrios said the new guidelines meet the team's goal to focus care on children at the highest risk of developing retinoblastoma while decreasing unnecessary examinations for children at lower or no risk.
"We wanted to make sure all the doctors who come in contact with these patients are aware of how to diagnose and treat them so we can save more eyes, more vision and of course more lives," said Dr. Chevez-Barrios. Clinical signs that may indicate retinoblastoma include: a white color in the pupil when a light is shone in the eye and eyes that appear to be looking in different directions. They encourage parents to seek medical attention if they notice any changes to their child's eyes.