Diagnosing retinoblastoma

An ophthalmologist widens the pupil with drops and inspects the retina and optic nerve. Young children may need anaesthesia so the doctor can examine both eyes carefully and document any tumours. Retinoblastoma can often be identified without taking tissue from the eye.

The eye examination helps establish the number, position and size of suspicious areas and whether one or both eyes are involved. An eye ultrasound can show structures inside the eye. MRI may be used to assess the eye sockets, optic nerves and nearby brain without exposing the child to ionising radiation.

A blood test for a change in the RB1 gene may be offered. The result can help the clinical team understand whether the condition may be inherited and whether relatives could benefit from genetic counselling. A genetic result is interpreted together with the eye findings rather than on its own.

Bring photographs that show an unusual white pupil reflex, a list of eye changes you have noticed, and any family history of retinoblastoma or childhood eye tumours. Tell the team about medicines, allergies, recent illness and any previous anaesthetic problems.

If an examination under anaesthesia is planned, follow the hospital's instructions about food, drinks and regular medicines. Ask when results will be discussed and who will coordinate eye care, imaging and genetic counselling. Treatment planning begins only after the team has mapped the disease and considered vision in each eye.

Arrange prompt medical assessment if a child's pupil looks white in ordinary light or repeatedly appears white in photographs, or if the eyes point in different directions. These changes have several possible causes, but they need an eye examination rather than watchful waiting.

Seek urgent care for a painful, very red or swollen eye, sudden loss of vision, or a child who becomes acutely unwell. Do not delay because a change seems intermittent; bring a clear photograph if the appearance is difficult to reproduce at the appointment.

You may want to ask whether both eyes will be examined under anaesthesia, which imaging is needed, and when the RB1 result may be useful. Also ask what the findings mean for vision, whether siblings need assessment, and which specialist will explain treatment choices such as chemotherapy or brachytherapy if treatment is required.