| Abstract [eng] |
Retinoblastoma is the most common eye tumour in children, accounting for about 2% of all childhood cancers, with a wide range of frequencies and mutations, diagnosed at an average age of 18 months, but can rarely occur in older children and adults. Retinoblastoma is caused by inactivation of both alleles of the retinoblastoma tumour suppressor gene (Rb1), which results in the production of the non-functional retinoblastoma protein (pRb), allowing uncontrolled cell division and tumour formation. Three main types of tumour growth are observed, namely endophytic (spreading into the vitreous), exophytic (spreading under the retina towards the choroid and sclera) and diffuse infiltrative (flat infiltration of tumour cells into the retina, horizontal growth). The new International Classification of Intraocular Retinoblastoma (IIRC) classifies tumours into stages A to E according to size, location and additional features. This helps to predict treatment options without enucleation or external beam therapy more accurately. In the early stage, the most common clinical features of retinoblastoma are leukocoria, strabismus, poor vision, and in rare cases pain and inflammation of the eye mimicking other diseases. However, in some cases there may be no symptoms. Proptosis and periorbital inflammation are associated with a late stage of the disease and are typical symptoms in most developing countries. The diagnosis of retinoblastoma can be suspected by clinical signs and established by examination of the fundus with indirect ophthalmoscopy, while additional instrumental examinations help to assess the disease in more detail and to distinguish other differential diagnosis. Early diagnosis of retinoblastoma is essential to save the child's life, eye/eyes and vision. Treatment can include a variety of methods such as chemotherapy, radiotherapy, enucleation, focal transpupillary thermotherapy, cryotherapy, or the use of the latest techniques such as target therapy and immunotherapy. Modern therapies aim to reduce systemic toxicity and improve treatment outcomes. Timely treatment can stop the spread of the tumour and achieve complete remission. |
