Retinoblastoma

a rare malignant tumor of the retina, in young children

When discovered and who:

James Wardrop discovered Retinoblastoma in 1809.
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The symptoms and side effects:

Normally when you shine a light in the eye the pupil looks red because of the blood vessels in the back of the eye, but with retinoblastoma the pupil often appears white or pink instead.

The late effects can include:

~loss of vision in eyes

~reduced kidney function

~heart problems

~slowed or delayed growth or development

~increased risk of other cancers

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What tests are done to see if an individual has retinoblastoma

~usually found when a child is brought to a doctor because they have certain signs or symptoms

~if you have the signs of this the doctor will examine there eyes and get a complete medical history

~if suspected the doctor will refer you to an ophthalmologist-doctor who specializes in eye diseases

~imaging tests are done to help confirm

Organiztions/support groups:

~Cure search for Children's Cancer

~NORD, National Organization for Rare Disorders

Anyway to prevent retinoblastoma or treatments

There are no ways to prevent this because it is so rare.

Some treatments are:

-chemotherapy

-radiation

-laser therapy

-Artificial eye

How retinoblastoma is inherited

~60% of retinoblastomas are non-germinal, means can not be inherited

~per year 250-350 children are diagnosed in the U.S, accounts for about 4% of all cancers in children younger than 15

~this gene is located on region of the long(q) arm of chromosome 13

~RB1-retinoblastoma 1, provides instructions for making a protein called pRB, acts as a tumor suppression meaning it regulates cell growth and keeps cells from dividing to fast or in an uncontrolled way

~ more likely to occur in early childhood, younger the 5 years old

Doctors that work in this field:

Ophthalmologist: Specializes in eye diseases.

Oncologist: Specializes in cancer.

Pediatric hematologist-oncology: Treats blood disorders and cancer in children.

Medical geneticist: Diagnoses and manages hereditary disorders.

Pediatrician: Provides medical care for infants, children, and teenagers.

Primary care provider (PCP): Prevents, diagnoses, and treats diseases.