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Retinoblastoma - Symptoms, Signs and Treatment



Retinoblastoma is a tumor originating from the immature retina. Symptoms and signs often include leukocoria and strabism, and less often inflammation and visual impairment. The diagnosis is based on ophthalmoscopy and ultrasound, CT or MRI. Treatment of small tumors and bilateral tumors may include photocoagulation, cryotherapy, and radiation therapy. Treatment of large tumors - enucleation. Chemotherapy is sometimes used to reduce the volume of the tumor and the spread of the tumor beyond the eye.


Retinoblastoma occurs with a frequency of 1/15 000-1 / 30 000 live births and is 2% in the structure of tumors in children. Most cases occur in children under 2 years of age, in children over 5 years less than 5% of the total number of re-tinoblastomas are observed. Sometimes the disease is hereditary. In about 25% of patients, bilateral lesions are noted, which are always inherited.Another 15% of patients have a hereditary one-sided lesion, and the remaining 60% are non-hereditary unilateral tumors. It turned out that the pathogenesis of inheritance includes a mutation that deactivates both alleles of the retinoblastoma suppressor gene located on chromosome 13q14. In hereditary forms, the germline mutation damages one allele in all cells and later a somatic mutation damages the other allele in the cells, the child’s retina, which leads to the development of a tumor. Non-hereditary forms include somatic mutations of both alleles in retinal cells.


Retinoblastoma - symptoms, signs, diagnosis



The diagnosis is usually made during examination in the presence of a white pupillary reflex or strabismus. Much less often in patients, the first manifestation is inflammation of the eyeball or decreased vision. Rarely, at the time of diagnosis, the tumor has already spread through the optic nerve or the choroid itself, or hematogenously, leading to a lesion in the eye socket or soft tissues, headache, anorexia or vomiting.


The ocular fundus should be examined in both eyes using the method of indirect ophthalmoscopy with dilatation of the pupils and under general anesthesia.A tumor appears as single or multiple gray-white ascending formations on the retina; tumor screenings may be visible in the vitreous. The diagnosis is usually confirmed with an ultrasound or CT scan of the orbit. In almost all cases, calcification can be detected on CT. At the same time, if there are violations of the optic nerve during ophthalmoscopy, MRI is preferable to detect the spread of a tumor through the optic nerve or the choroid itself. If an out-of-eye distribution is suspected, the examination should include bone scintigraphy, puncture and trephine nobiopsy of the bone marrow and spinal puncture.


Children with a family history of retinoblastoma should be examined by an ophthalmologist shortly after birth, and then every 4 months until the child is 4 years old. Patients with retinoblastoma must undergo a molecular genetic examination, and when identifying a germline mutation, the parents of the patient must also be screened for the same mutation. Subsequent children of parents who have discovered a germline mutation must also undergo the same genetic examination and be regularly examined by an ophthalmologist.DNA testing can be useful for identifying asymptomatic carriers.


Retinoblastoma - treatment



When treating more than 90% of patients with an intraocular tumor can be cured. The prognosis in the presence of metastases is bad. Patients with hereditary retinoblastoma have an increased likelihood of 2nd tumor, about 50% of which develops in the irradiated area. These tumors can include sarcoma and malignant melanoma. Within 30 years from the time of diagnosis, 70% develop 2nd tumor.


With unilateral retinoblastoma, enucleation is performed with the removal of the largest possible part of the optic nerve. With a bilateral tumor, vision can usually be saved. Methods of choice include bilateral photocoagulation or unilateral enucleation and photocoagulation, cryotherapy or radiation therapy of another eye. Radiation therapy is carried out by external irradiation or with a very small tumor size by application of radioactive material to the wall of the eye in the immediate vicinity of the tumor. Systemic chemotherapy, for example carboplatin and etoposide or cyclophosphamide and vincristine, can be effective in reducing the size of a large tumor or in disseminating the tumor beyond the eye.At the same time, isolated chemotherapy can rarely lead to a cure. An ophthalmological examination of both eyes and a second course of treatment, if necessary, are performed at 2-4-month intervals.


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