What kind of tumor is this
The retina is formed from rapidly dividing cells. Normally, their division stops in time, but if both copies of the regulatory gene are damaged, control is lost and the cells continue to multiply, forming a tumor node. It can grow inside the vitreous, under the retina, or spread over its entire surface. Without treatment, the tumor spreads outside the eye along the optic nerve and through the bloodstream. In about a third of cases, both eyes are affected, and it is almost always hereditary.
- One-sided form - often random, detected later
- Bilateral form - almost always hereditary
- The hereditary form appears at an earlier age
- Growth into the vitreous or under the retina
- Spread along the optic nerve is the most dangerous direction
The first signs that parents notice
The most common and most recognizable symptom is leukocoria: instead of the usual red glow, the pupil gives a white, yellowish or grayish glow. This is especially often noticed in photographs with a flash, where one pupil is red and the other is white. The second most common symptom is sudden strabismus: a tumor in the central zone deprives the eyes of clear vision, and it ceases to maintain the correct position. Less commonly, the eye turns red, looks inflamed or painful, the pupil dilates, and the iris changes color.
- White pupil reflection instead of red
- Strabismus that appeared suddenly
- Redness and swelling of the eye without infection
- Dilated pupil that does not respond to light
- Change in iris color
- In later stages - protrusion of the eye
Diagnostics
The diagnosis is made by a pediatric ophthalmologist upon examination of the fundus with a wide pupil; in young children, under anesthesia, since the entire periphery of the retina of both eyes must be carefully examined. Ultrasound examination shows a mass formation with characteristic calcium inclusions. MRI of the orbits and brain clarifies whether the tumor has spread beyond the eye and whether the optic nerve has been affected. A biopsy is not performed if retinoblastoma is suspected: it is dangerous due to the spread of cells. The family must undergo genetic counseling and examine the child’s siblings.
- Examination of the fundus under anesthesia with a wide pupil
- Ultrasound of the eye
- MRI of orbits and brain
- Refusal of biopsy due to risk of spread
- Genetic testing and family counseling
- Screening of siblings
Treatment
Tactics are determined by a council of pediatric oncologists and ophthalmologists, and it depends on the size of the tumor, its location and whether both eyes are affected. The modern approach tries to save life, the eye, and vision: first, chemotherapy reduces the node, then local methods are used - laser coagulation, cryotherapy, suturing a radioactive plate. If a large tumor fills the eye or threatens to spread along the optic nerve, the eye is removed, and this saves the child’s life. After removal, a prosthesis that looks natural is selected. Treatment is always carried out in a specialized children's cancer center.
- Systemic or local chemotherapy
- Laser coagulation and cryotherapy of small lesions
- Brachytherapy - suturing a radioactive plate
- Removal of the eye in case of a large tumor and threat of spread
- Eye prosthetics after surgery
- Long-term observation with regular examinations under anesthesia
Observation and heredity
Even after successful treatment, the child remains under observation for a long time: fundus examinations are repeated according to schedule while the risk of new lesions remains. Children with the hereditary form require lifelong attention because they are more likely to have other tumors during their lifetime, especially after radiation therapy. If there has already been a case of retinoblastoma in the family, children are examined from the first days of life, and genetic counseling helps plan surveillance. It is important for parents to know the signs that require immediate attention.
- Regular fundus examinations after treatment
- Lifelong observation for hereditary form
- Examination of newborns in families with a history of the disease
- Genetic counseling for parents
- Attention to any new squint and white pupil reflection
- Scheduled examinations by an ophthalmologist for all children within prescribed periods
