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Retinoblastoma

There’s a disease that lurks among young children even to this day. It’s a direct result of a mutation in the genes that could result in the removal of the eye. Both boys and girls are affected, and one in every fifteen to thirty thousand babies is infected every year (Ambramson, Ch1). This eye corrupting, chromosomal abnormality shows up in about 300-350 new cases each year. It is called retinoblastoma.Many signs include a “white pupil,” also known as leukocoria. Retinoblastoma can occur in either one or two eyes (Paul T. Finger, Pg. 1). This abnormal white pupillary reflex is sometimes referred to as a cat's eye reflex. Another sign of retinoblastoma is a crossed eye (Ambramson, Ch3). Leukocoria doesn’t always end up as being retinoblastoma, it can even result in: congenital cataract, Toxocara canis, Coat’s disease, and persistent hypertrophic primary vitreous (PHPV) (Finger, Pg.2). Retinoblastoma occurs when there’s a mutation or deletion of the q14 band of chromosome 13 (Finger, Pg. 1). Symptoms can be painful if not treated quickly. Some include a red, painful eye, swelling of the surrounding eye, poor vision, dilated pupil, even extra fingers or toes, and retardation (Ambramson, Ch3).There is a very limited number in how this disease can be treated. I can be examined under anesthesia, specialized blood tests, CAT scans, and ultrasound (Finger, Pg. 1). Normally, a child would be examined if there were a past history of retinoblastoma from the parents. There would be a slim chance if a child shows up with the disease if the parents had ever had it. Normally, parents are the ones to notice the “white pupil” first (Ambramson, Ch6). The optometrist would recommend an ophthalmologist, who uses anesthesia to analyze the eye. He/she will then dilate the eyes to view the retina in search of tumors or abnormalities and where they are located. Sketches are then drawn o...

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