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Sabir Shah Babor

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Retinoblastoma
Retinoblastoma is a cancer of one or both eyes which occurs in young children. Retinoblastoma can occur in 2 types: Firstly, 10% of retinoblastoma cases are familial cases. The 2nd type of cases are sporadic cases . 90% of cases are of this second type. Sporadic cases can be either due to germinal mutations or somatic mutations or both. Retinoblastoma can be inherited in an autosomal dominant disorder with full penetrance. When the tumors are present in one eye, it is unilateral retinoblastoma, and when it occurs in both eyes it is bilateral retinoblastoma. Most of the cases are unilateral. This diagram describes the probability of transmitting retinoblastoma to the offspring.

(http://retinoblastoma.com/retinoblastoma/frameset1.htm ) Pathogenesis: Retinoblastoma causes mutations in the RB1 gene(deletion of RB1 gene) which is located on chromosome 13q14. RB1 is a tumor suppressor gene, which means that it normally regulates cell growth and keeps cells from dividing too rapidly or in an uncontrolled way. Most mutations in RB1 gene prevent it from making any functional protein, so it is unable to regulate cell division effectively. As a result, certain cells in the retina can divide uncontrollably to form cancerous tumors. (These genetic changes can also cause two other tumors). Symptoms: white pupil reflex (leukocoria) is also called cat s eye reflex. Another symptom is crossed eyes called strabismus. The child s eye may turn out (towards the ear) or turn in (towards the nose). Red painful eye, double vision, Poor vision, trouble in eating/drinking and different eye colours (iris) are also symptoms.

Sabir Shah Babor

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Diagnosis and Treatment: The physician should check for there being any family history of retinoblastoma. He should also do an eye examination with dilation of the pupil. Take Ultrasound of the eye, CAT scan of head and eye, MRI of head and eye. Treatment of retinoblastoma is based on important factors example, size, and location, spreading of tumor, and unilateral or bilateral for each patient. Enucleating is one method, enucleating is surgery to remove eye. Radiation therapy uses high energy x-rays or other radiation to kill cancer cells. Cryotherapy is destroying of abnormal tissue by freezing and destroys it. Thermotherapy has same principle but instead of freezing they use heat to destroy cancer cells (laser therapy), and chemotherapy is uses of chemical such as drug to stop growing of cancer cell. There is different staging system of retinoblastoma. Reese-Ellsworth stages of retinoblastoma. Group I Group II Group III Less in size than 4 disc diameters (DD) and are at or behind the equator. 4 to 10 DD in size and they are located at or behind the equator

Any lesion anterior to equator and they are larger 10 DD in size behind the equator. Group IV Multiple tumors larger than 10 DD, any lesion extending anterior to the ora serrata Group V Massive tumors involving over half of the retina and have spread to other parts of the body. (http://retinoblastoma.com/retinoblastoma/frameset1.htm ) Approximately 90% of the patients get healthier (it depends also on which group of staging system the patient is in). There are 350 new cases per year in U.S and 5000 per year worldwide. Retinoblastoma affects all races equally.

References:
http://www.retinoblastoma.net/what_is.html http://retinoblastoma.com/retinoblastoma/frameset1.htm http://www.cancer.gov/cancertopics/pdq/treatment/retinoblastoma/patient/page1 http://www.eyecancer.com/Patient/Condition.aspx?nID=53&Category=Retinal%2BTumors&Conditio n=Retinoblastoma

Books
Genetics (Analysis and principles) by Robert J.Brooker Page 624 to 625.