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Retinoblastoma in children
Last reviewed: 07.07.2025
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Retinoblastoma is the most common malignant neoplasm in pediatric ophthalmology. It is a congenital tumor of the embryonic structures of the retina, the first signs of which appear at an early age. Retinoblastoma can occur sporadically or be inherited.
The incidence of retinoblastoma ranges from 1 in 15,000 to 30,000 live births. In the United States, it is about 200 new cases per year, of which 40-60 are bilateral.
About 80% of retinoblastoma cases are diagnosed before 3-4 years of age, with the peak incidence occurring at 2 years of age. Bilateral lesions are diagnosed earlier than unilateral ones.
Retinoblastoma is often associated with multiple congenital anomalies: cardiovascular malformations, cleft palate, cortical hyperostosis, dentinogenesis imperfecta, familial congenital cataract.
Retinoblastoma is known to the international oncology community as a virtually ideal model for studying carcinogenesis, especially its hereditary nature. The cause of this tumor is a mutation of both copies or loss of the RB1 gene allele (a suppressor gene located in the 13ql4 region), which leads to a disruption of cell cycle control, since this gene encodes a nuclear phosphoprotein with a molecular weight of 110 kDa, suppressing DNA replication. Retinoblastoma develops in 80-90% of carriers of the chromosomal defect, which reflects the “two-hits model” of malignant neoplasm development developed by Knudson. According to this model, hereditary malignant neoplasms develop with a germ cell mutation in combination with a somatic mutation of a similar allele. Two somatic mutations are necessary for the development of non-hereditary cancer. The first mutation, according to Knudson's theory, occurs in the prezygote phase, so all cells of the body contain the abnormal gene. In the postzygote phase, only one mutation (somatic) is necessary for tumorigenesis. This theory explains the development of a bilateral or multifocal form of the disease in patients with an aggravated hereditary history. The presence of an abnormal copy or loss of an allele in all cells of the body also explains the reason for the earlier development of a tumor in patients with a familial form of the disease. The need for two parallel somatic mutations during oncogenesis explains the prevalence of a unifocal tumor in patients with a non-hereditary form of retinoblastoma.
Children with familial retinoblastoma (40% of all retinoblastomas) are prone to developing a second neoplasm. As a rule, these are solid tumors, appearing in 70% of cases in the radiation zone, in 30% of cases - in other areas. Sarcomas, including osteosarcoma, occur most frequently.
Symptoms of retinoblastoma
The most frequently observed external signs are strabismus and leukocoria (white reflex of the fundus). On the retina, the tumor looks like one or multiple whitish foci. The tumor can grow endophytically, penetrating all the media of the eye, or exophytically, affecting the retina. Other symptoms are periorbital inflammation, fixed pupil, heterochromia of the iris. Loss of vision in young children may not manifest itself with complaints. Intraocular tumors are painless if there is no secondary glaucoma or inflammation. The presence of a tumor in the anterior parts of the eyeball, as well as metastasis, is associated with a poor prognosis. The main routes of retinoblastoma metastasis are contact along the optic nerve, along the sheaths of the optic nerve, hematogenously (along the veins of the retina) and by endophytic growth into the orbit.
Diagnosis of retinoblastoma
The diagnosis of retinoblastoma is established on the basis of clinical ophthalmological examination, radiography and ultrasonography without pathomorphological confirmation. If there is a family history, children need to be examined by an ophthalmologist immediately after birth.
To confirm the diagnosis and determine the extent of the lesion (including detection of a tumor in the pineal region), CT or MRI of the orbit is recommended.
Treatment of retinoblastoma
Retinoblastoma is one of the solid tumors of childhood that is most successfully treated, provided that it is diagnosed in time and treated using modern methods (brachytherapy, photocoagulation, thermochemotherapy, cryotherapy, chemotherapy). Overall survival, according to various literature data, varies from 90 to 95%. The main causes of death in the first decade of life (up to 50%) are the development of an intracranial tumor synchronously or metachronously with retinoblastoma, poorly controlled tumor metastasis beyond the central nervous system, and the development of additional malignant neoplasms.
The choice of treatment method depends on the size, location and number of lesions, the experience and capabilities of the medical center, and the risk of involvement of the second eye. Most children with unilateral tumors are found to have a fairly advanced stage of the disease, often without the possibility of preserving the vision of the affected eye. This is why enucleation often becomes the method of choice. If the diagnosis is made early, alternative treatments may be used to try to preserve vision - photocoagulation, cryotherapy or irradiation.
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