Retinoblastoma is a rare and aggressive form of eye cancer that is mostly prevalent among children and can be unilateral or bilateral. It is first identified through Leukocoria, which is the most common symptom. Leukocoria refers to an altered red pupillary reflex that is more prominent following dilation of the eyes. This symptom is present in 60% of retinoblastoma cases and can be a determining factor for the age of diagnosis. This is important for children, especially infants, because of the mortality rates they face if not properly diagnosed in time. The presentation of retinoblastoma can also be classified through the presence or absence of the RB1 gene on chromosome 13q14, which is a tumor suppressor gene. Tumor suppressor genes have been linked to commonly mutated cancer cells due to their role in regulating the cell cycle. Heritability of this gene dictates the overall presentation of retinoblastoma if one or both alleles are lost. Diagnosis of retinoblastoma is completed through fundoscopy, which examines the lesion while the patient is under anesthesia through indirect ophthalmoscopy, or an MRI or CT scan. Treatment relies on classification from the International Classification of Retinoblastoma (ICRB), which has evolved from the Reese-Ellwsworth Classification system. ICRB is more extensive in that it considers heritability, laterality, and the extent of tumor seeding within a patient rather just tumor size and location. Once classified, first-line treatment varies depending on if retinoblastoma is bilateral or unilateral. Classification and administration of treatment in children is important but often depends on a country’s income status. Higher income countries have been found to diagnosis retinoblastoma earlier in children than those experiencing lower incomes.
Retinoblastoma is an eye cancer that forms in the retina – the lining on the inside of the eye. The cause of this condition is due to genetic mutations developing in the nerve cells in the retina. The cells continue to grow and multiply. Healthy cells would normally die but the mutation causes them not to. This causes the cells to accumulate into a mass which forms a tumor.
When you shine a light into a healthy eye, the pupil will look red. This is because of the blood vessels in the back of the eye. However, when you shine a light into the eye of someone with retinoblastoma, the pupil will appear white or pink. This is known as the white pupillary reflex. When the eye appears white, it is a symptom called Leukocoria and is also typically the first sign of retinoblastoma. The eye might always be dilated. Another way that this condition can be detected is through flash photos. Pupils normally look red when seen in a flash photo, but with people who have retinoblastoma, their pupils may appear white at certain angles. When the eye only appears white at certain angles, this indicates that the tumor is small. When the eye appears white no matter which angle the photo is taken from, this is a strong indication that the tumor within the eye is large.
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