Hereditary retinoblastoma (HR) is a malignant tumor originating from the cells of the retina of the eye, which predominantly affects children, especially those under five years of age. The disease can manifest as a unilateral or bilateral lesion. The main mechanism of retinoblastoma development is a mutation in the genes responsible for the control of cell division and apoptosis, which leads to uncontrolled proliferation of cells in the retina. Although most cases of HR have a spontaneous mutation, the hereditary type of the disease is associated with the inheritance of abnormal alleles from parents. A family history of HR increases the risk of the disease in future generations, which emphasizes the importance of genetic counseling for potential relatives.
History of the disease and interesting historical facts
Retinoblastoma was first described in the medical literature in 1809 by the German anatomist and pathologist Jacob Mary, who documented cases of the malignant tumor in the eyes of infants. The modern concept of the disease began to emerge in the early 20th century, when Carl Fienberg first proposed the name “retinoblastoma” in 1932. The 1940s saw important advances in diagnosis and treatment, leading to a significant increase in survival rates. In 1971, the survival rate was 741 TP3T, while today this figure exceeds 951 TP3T, thanks to modern surgery and chemotherapy.
Epidemiology
According to the World Health Organization, retinoblastoma occurs with a frequency of 1 case per 15,000-20,000 newborns. Estimates show that approximately 8,000 new cases are detected worldwide each year. The disease is more common in children of African and Asian descent, with the risk of developing unilateral RB being 60-70%, while the bilateral form accounts for almost 30% of all cases. It is important to note that early diagnosis and intervention significantly increase the survival rate and quality of life of patients.
Genetic predisposition to this disease
The hereditary form of retinoblastoma is associated with mutations in the Rb1 gene, located on chromosome 13. This gene codes for a protein that controls the cell cycle and prevents uncontrolled cell division. Mutations in Rb1 lead to a loss of its functionality and, as a result, to the emergence of tumor cells. Autosomal dominant inheritance means that one altered copy of the gene from one parent is enough to increase the risk of developing RB. Some patients may also have additional mutations in genes, including TP53, which can complicate the course of the disease and increase the likelihood of other malignancies.
Risk factors for the development of this disease
Factors that contribute to the development of retinoblastoma include:
- Heredity is the presence of a disease in a family, especially in the first line of kinship.
- Preexisting genetic disorders such as Li-Fraumeni syndrome, which are associated with mutations in the TP53 gene.
- Environmental factors, including exposure of pregnant women to radiation.
- Certain factors associated with newborns, such as premature birth or low birth weight.
Risks may be increased by complex interactions between genetic predispositions and the environment, highlighting the need for comprehensive monitoring of high-risk infants.
Diagnosis of this disease
The main symptoms of retinoblastoma are:
- Photophobia (blepharospasm).
- Visual impairment, including the appearance of a "white pupil" when taking photographs.
- Strabismus, especially if it appears at an early age.
- Redness and inflammation of the eye.
The following methods are usually used for diagnostics:
- A clinical examination that includes a detailed examination of the eye and visualization of the pupil.
- Ultrasound examination of the eye allows visualization of the presence of tumors in the eye.
- Magnetic resonance imaging (MRI) is used to determine the extent of the tumor and the presence of metastases.
- Differential diagnosis includes exclusion of other diseases, such as infectious diseases (eg, chorioretinitis) and other types of tumors.
Treatment
Treatment of retinoblastoma depends on the stage of the disease and its location. Common strategies include:
- Surgical intervention – excision of the tumor or orbit if necessary.
- Chemotherapy – used to shrink the tumor before surgery and to prevent recurrence.
- Laser therapy and cryotherapy in case of small tumors.
- Radiation therapy is sometimes used when surgery is not an option.
A combination of different methods appears to be the most effective, allowing for maximizing results and minimizing possible complications of therapy.
List of medications used to treat this disease
Commonly used chemotherapy drugs include:
- Cisoplatin
- etoposide
- Carboplatin
- Vincristine
These drugs have a toxic effect on tumor cells and help slow their growth or destroy them.
Disease monitoring
Post-treatment monitoring includes regular eye examinations and imaging studies to detect recurrences. The prognosis for survival of patients with this rare diagnosis remains favorable if diagnosed promptly and treated appropriately. However, possible complications include vision loss, development of secondary tumors in the hereditary form of retinoblastoma, and psychological and social problems resulting from the disease.
Age-related features of the disease
Retinoblastoma has its own characteristics depending on the patient’s age:
- In newborns, the disease is more aggressive, associated with a higher risk of metastasis.
- In older children, the disease usually has a less aggressive course, but a painful condition may arise due to various somatic and psychological factors.
The characteristics of the course and approaches to treatment vary depending on age, which requires an individual approach to therapy.
Questions and Answers
- What symptoms may indicate retinoblastoma? Symptoms may include photophobia, white pupil, vision problems, and strabismus.
- How common is this disease? Retinoblastoma occurs with a frequency of 1 in 15,000 to 20,000 newborns.
- What is the hereditary predisposition to this disease? If there are relatives with RB, the risk of the disease in descendants increases significantly.
- What diagnostic methods are used to detect retinoblastoma? The main diagnostic methods include ultrasound, MRI and clinical examinations.
- Can retinoblastoma be prevented? There is no complete prevention, but genetic counseling can help identify high risk in a family.
Advice from Dr. Oleg Korzhikov
Dr. Oleg Korzhikov recommends: "If you suspect symptoms of retinoblastoma in a child, you should urgently contact an ophthalmologist for a detailed examination. Early detection of the tumor helps to increase the effectiveness of treatment and reduce the risk of complications. It is also important to remember the need for genetic counseling to identify hereditary factors, especially if you have already had cases of RB in the family."
