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Retinoblastoma
Sunday, 31 August 2003
Wednesday, 04 February 2004

What

Retinoblastoma is a cancer that affects the retina, which is a structure located at the back of the eye. The retina normally helps process images received by the eye and sends information through nerves to the brain for interpretation. A retinoblastoma can disrupt this process and potentially lead to vision loss. Retinoblastomas account for 5% of cases of blindness in children.

Who

Retinoblastomas are most commonly found in children under 5 years of age. About 200-300 children in the U.S. are diagnosed with retinoblastoma each year. There is no racial, sex, or geographic predilection.

Signs and Symptoms

Children with retinoblastoma may exhibit some or all of the following signs and symptoms: Pupil (the middle black part of the eye) appearing white in the affected eye Redness in eye from inflammation Pain in eye from inflammation or in rare cases from glaucoma (elevated pressure in eye) Crossed eyes from tumor compression of key nerves Vision loss occurs rarely

Possible Causes

There are two forms of retinoblastoma, hereditary (~40% of cases) and non-hereditary (~60% of cases). In both forms of retinoblastoma, the cause is a defect in a gene (the RB1 gene in retinal cells) that normally helps to protect against tumor formation (thus called a tumor suppressor gene). The defect disrupts the gene’s protective function, so cancer is more likely to form in the child’s retina. Every child’s cells have two copies of the RB gene, and if one copy is normal, the normal gene will dominate and prevent the tumor from forming. Thus, if each parent has one normal copy and one copy with the genetic defect, the parents will not have retinoblastoma. However, if for example the child inherits a disrupted copy and a defect spontaneously occurs in the normal copy, the child will be highly predisposed to developing hereditary retinoblastoma. The non-hereditary form results when the defect in both RB1 genes occur spontaneously rather than being passed through families. The hereditary form tends to affect both eyes more often than the non-hereditary form does.

Diagnosis

Retinoblastoma is sometimes first noticed in pictures when the eye appears white rather than red with flash photography. Light reflecting off a healthy retina of the eye appears red because of the presence of blood vessels, but a retinoblastoma obstructs light reflecting from vessels and thus causes the retina to appear white. A doctor can detect retinoblastoma when examining the eye after dilating the pupil (making the patient’s pupil bigger) with medicated eye drops. An ultrasound of the eye and a CT (computed tomography) scan produce images that the doctor can use to determine the size and location of the tumor in the retina. Blood tests including a complete blood count and sampling of spinal fluid may be required to check for any bone marrow or spinal column involvement.

Treatment

The major goals of treatment are to remove the tumor and prevent metastasis (spread) while attempting to preserve as much vision as possible. If the tumor is small, laser surgery or localized radiation therapy may be done to remove the cancer. For bulky tumors, surgical removal may be attempted in addition to the use of external beam radiation therapy. Chemotherapy is used in cases where the retinoblastoma has spread to the optic nerve, the pathway between the retina and brain, though sometimes it is not possible to completely remove such tumors. In the worst cases, enucleation or removal of the eye may be necessary. Genetic counseling is an important component of therapy for patients with the hereditary form of the disease.

Prognosis

Prognosis for long-term survival is generally very good for children with a retinoblastoma that is confined to the eye because the tumor can usually be removed completely. In such cases, the 5-year survival rate is 90%. The prognosis is poor when the tumor has spread to the optic nerve and/or brain.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

National Cancer Institute
This website provides information about retinoblastoma and about cancer in general, from emotional aspects of having or caring for someone who has retinoblastoma to glossaries explaining medical terms you may comes acress while reading or hearing about the disease. From the Retinoblastoma Home Page, you can also click on the "Young People with CAncer: A Handbook for PArents" link to obtain information about issues such as talking to children about cancer. There ae also links to ongoing clinical trials.

Children’s Cancer Web
This website gives an excellent listing of resources that provide further information about retinoblastoma, support groups for both children and those caring for them, and websites created by children with retinoblastoma describing their personal experiences.

Retinoblastoma
This website provides phone numbers, addresses, and descriptions of major organizations that can be contacted for general information about cancer, information and support groups specifically for children with retinoblastoma and their caregivers, and resources helping those with visual impairment. There is also information about ongoing research.

Google Search for Retinoblastoma

References and Sources

online.statref.com/Document.aspx?DocId=484&FxId=33&SessionId=134727PNGRJVFJEN&Scroll=3&Index=0 Hay, William W., Jr. (and others), eds. Current Pediatric Diagnosis & Treatment. 16th Ed. (2003) 28. Neoplastic Disease - Edythe A. Albano, MD, Linda C. Stork, MD, Brian S. Greffe, MD, CM, Lorrie F. Odom, MD, & Nicholas K. Foreman, MD home.mdconsult.com/das/book/29456208/view/873 Behrman: Nelson Textbook of Pediatrics, 16th ed., Copyright © 2000 W. B. Saunders Company Part XXVIII - Disorders of the Eye 637 - Disorders of the Retina and Vitreous home.mdconsult.com/das/book/29456208/view/873 Behrman: Nelson Textbook of Pediatrics, 16th ed., Copyright © 2000 W. B. Saunders Company Chapter 508 - Retinoblastoma Gerald S. Gilchrist and Dennis M. Robertson www.nlm.nih.gov/medlineplus/ency/article/001030.htm (MEDLINEplus Health Information Medical Encyclopedia: Retinoblastoma)