Retinoblastoma is a malignant tumor that starts from the immature retina. The symptoms and findings often include a leukocoria (cat’s eye, a white spot on the pupil) and strabismus and, less frequently, inflammation and vision problems one. The diagnosis is made by means of ophthalmological examination, ultrasound, computed tomography or magnetic resonance imaging. The treatment of small tumors and bilateral disease can be carried out with photocoagulation, cryotherapy and radiation. Treatment of advanced and larger tumors lead to enucleation. Chemotherapy is sometimes used to reduce tumor size, and to treat tumors that have spread beyond the eye.

Retinoblastoma occurs at 1 / 15,000 to 1 / 30,000 live births and represents about 2% of cancers in children. Most cases occur in children <2 years and <5% in children> 5 years. The cancer can be hereditary; Inheritance is mainly autosomal dominant, but with incomplete penetrance (clinical symptoms are not always present in individuals with disease-causing mutation). Approximately 25% of patients have bilateral disease that is always inherited. Another 15% of patients have a hereditary unilateral disease, the remaining 60% have a non-heritable unilateral disease on.

Retinoblastoma is a malignant tumor that starts from the immature retina. The symptoms and findings often include a leukocoria (cat’s eye, a white spot on the pupil) and strabismus and, less frequently, inflammation and vision problems one. The diagnosis is made by means of ophthalmological examination, ultrasound, computed tomography or magnetic resonance imaging. The treatment of small tumors and bilateral disease can be carried out with photocoagulation, cryotherapy and radiation. Treatment of advanced and larger tumors lead to enucleation. Chemotherapy is sometimes used to reduce tumor size, and to treat tumors that have spread beyond the eye. Retinoblastoma occurs at 1 / 15,000 to 1 / 30,000 live births and represents about 2% of cancers in children. Most cases occur in children <2 years and <5% in children> 5 years. The cancer can be hereditary; Inheritance is mainly autosomal dominant, but with incomplete penetrance (clinical symptoms are not always present in individuals with disease-causing mutation). Approximately 25% of patients have bilateral disease that is always inherited. Another 15% of patients have a hereditary unilateral disease, the remaining 60% have a non-heritable unilateral disease on. The pathogenesis of inheritance appears to involve a mutation-related deactivation of both alleles of the retinoblastoma suppressor genes (RB1) on chromosome 13q14. The inherited forms a stem cell mutation alters one allele in all cells and subsequent somatic mutation and the other allele in the retinal cells of the child (second-hit model) and leads to cancer. The non-heritable form involved rather the somatic mutation of both alleles in the retinal cells. Symptoms and discomfort, patients are usually a leukocoria (a white reflex in the pupil, which is sometimes referred to as cat’s eye) presented or strabismus. Less frequent are patients with inflammation of the eye or vision problems in the treatment. Rarely, the cancer along the optic nerve, the choroid or hematogenous has spread and is presented with the following symptoms: an orbital or soft ground, local bone pain, headache, anorexia or vomiting. Leukocoria in an infant with retinoblastoma with permission of the publisher. From Scott I., R. Warman, Murray T .: Atlas of Ophthalmology. Edited by RK Parrish II and T. G. Murray. Philadelphia, Current Medicine, 2000. var model = {thumbnailUrl: ‘/-/media/manual/professional/images/leukocoria_in_infant_with_retinoblastoma_high_de.jpg?la=de&thn=0&mw=350’ imageUrl: ‘/ – / media / manual / professional / images / leukocoria_in_infant_with_retinoblastoma_high_de.jpg lang = en & thn = 0 ‘, title:’? leukocoria in an infant with retinoblastoma ‘description:’ u003Ca id = “v37898041 ” class = “”anchor “” u003e u003c / a u003e u003cdiv class = “”para “” u003e u003cp u003eDie leukocoria in retinoblastoma is usually caused by direct reflection of the chalk-white tumor u003c / p u003e u003c / div u003e ‘credits’. with permission of the publisher

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