Genetic Diseases


A few words about Retinoblastoma

Retinoblastoma is rare genetic disease that causes cancerous tumors to form on the retina located at the rear inside wall of the eyes. This disease can affect persons at any age but is more common amongst children. The disease can be fatal to a child if left untreated as the tumors can spread through the optic nerve to the brain. Treatment can in some cases involves the removal of the eye. Although there is the potential for this disease to be fatal, with treatment the five-year survival rate of children with this disease in the United States is 93%.

Signs and symptoms of Retinoblastoma

Parents often notice retinoblastoma in photographs taken of their children. In children with this disease the child’s pupil will look white instead of the usual red color associated with photography. Doctors can also usually see the tumors with a flashlight shone into the eye. Another common symptom associated with retinoblastoma is “lazy eye” – the condition where the eyes do not appear to look in the same direction.

Some less common signs and symptoms that can be found in sufferers include a pupil that does not contract when exposed to bright light, eye pain, vision problems and redness that develops in the white area of the eye.

Causes of Retinoblastoma

Retinoblastoma is caused by a gene mutation. In approximately 60% of cases the mutation only occurs in one cell of an eye, therefore only the eye with the damaged cell develops a tumor. It is believed that the mutation of this specific gene may be a random error that occurs during normal cell division.

The other 40% of cases are called hereditary retinoblastoma as it can be passed on to the children of sufferers. In this form of retinoblastoma the gene mutation occurs in every cell of the body. Although this form can be inherited, only 25% of children with this form of the disease do in fact inherit it from their parents. The larger percentage of sufferers develop the mutation of all of the cells in their bodies in the womb after conception.

Retinoblastoma Treatment

Treatment options for this disease depend upon many factors including how much of a child’s vision is at risk and if both eyes are affected. If only one eye is affected and it has been permanently damaged by the tumor, removal of the eye is often the chosen means of treatment. When both eyes are affected or vision stills remains in one affected eye a variety of cancer treatments such as chemotherapy, internal or external radiation, laser treatment or freezing may be employed.

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