GENETIC DISORDER

WHat is the name of the genetic disorder?

• The name of the genetic disorder is retinoblastoma.

what system or part of the body does this disorder affect?

• This disorder affects an eye of a young child.

what gene and/or chromosome is mutated in this disorder?

• The gene Rb is lost from chromosome 13.

what is the type of mutation that causes this disorder?

• The type of mutation that causes this disorder is deletion.
• deletion is when a section of DNA is lost, or deleted.

Is this mutation dominant or recessive?

• it is recessive.

what are the symptoms of this diorder?

• A visible whiteness in the pupil called "cat's eye reflex" or leukocoria.
• The whiteness is noticeable in pictures taken with flash.
• Another symptom would be crossed eyed or eyes that point in different directions;
• eye pain, redness, or irritation; blindness or poor vision in the affected eye.

WHAT ARE THE POSSIBLE TREATMENTS FOR THIS DISORDER?

• Enucleation: is when they remove the eye, but leave muscles and orbital contents.
• Radiation therapy: The treatment of the eye using radiation .
• Systemic chemotherapy: chemotherapy taken by pill or needle injection into a vein or muscle.

Does this disorder affect specific populations of people?

• This disease is usually found in young children.
• Typically before the age of 5.

What is the percentage or ratio of the population suffering from this disorder?

• It's diagnosed in 250 to 350 kids per year in the U.S.

THE END