RETINOBLASTOMACREATED BY: RYAN STOUT

WHAT IS RETINOBLASTOMA?

• Retinoblastoma is a very rare type of cancer that attacks the retina.

• The retina is the thin membrane on the back of the eye that detects light and color.

• Typically diagnosed by age three.

• Can be congenital (hereditary) or adventitious (non-hereditary).

TYPES OF RETINOBLASTOMA:

GERMLINE RETINOBLASTOMA

• HEREDITARY (ONLY ONE PARENT NEEDS TO CARRY A COPY OF THE MUTATED GENE TO PASS THE INCREASED RISK)

• TYPICALLY DIAGNOSED BY AGE 1

• 40% OF RETINOBLASTOMA PATIENTS HAVE THIS TYPE

• LEADS TO MULTIPLE TUMORS IN ONE OR BOTH EYES

• MAY PASS TO THEIR CHILDREN

• LIKELY TO DEVELOP OTHER FORMS OF CANCERS IN THEIR LIFETIME

NON-HEREDITARY RETINOBLASTOMA

• NOT GENETIC

• TYPICALLY DIAGNOSED BY AGE 2

• 60% OF RETINOBLASTOMA PATIENTS HAVE THIS TYPE

• USUALLY DEVELOP TUMORS IN ONE EYE

• MOST RESPONSIVE TO TREATMENT

CAUSES OF RETINOBLASTOMA:

• MOST CASES OF RETINOBLASTOMA ARE CAUSED BY MUTATIONS IN THE RBI GENE. THE MUTATED CELLS CONTINUE TO MULTIPLY AND GROW THUS FORMING A TUMOR.

• THE RBI GENE IS RESPONSIBLE FOR REGULATING CELL GROWTH AND PREVENTING RAPID CELL DIVISION. IF THERE IS A MUTATION IN THE RBI GENE, IT STRUGGLES TO REGULATE CELL DIVISION IN AN EFFECTIVE MANNER. RETINOBLASTOMA CAN METASTASIZE (SPREAD) TO OTHER AREAS OF THE BODY. THIS INCLUDES OTHER AREAS WITHIN THE EYE OR OUTSIDE OF THE EYE SUCH AS THE BRAIN, BONES, AND SPINE.

• MAY ALSO BE CAUSED BY DELETIONS IN THE REGION OF CHROMOSOME 13 THAT CONTAINS THE RBI GENE.

WHAT ARE THE SYMPTOMS?

• CAT’S EYE- A WHITE-YELLOW MASS OR GLOW THAT IS VISIBLE THROUGH THE PUPIL WHEN LIGHT IS SHINED INTO THE EYES. THIS CAN USUALLY BE DETECTED OR SEEN WHEN A PICTURE IS TAKEN WHILE UTILIZING THE FLASH.

• REDNESS OR SWELLING AROUND THE EYE.

• POOR VISION

• ENLARGED PUPIL

• DIFFERENT COLORED IRISES

• STRABISMUS (EYES TURNED INWARD OR OUTWARD)

• COMPLAINTS OF PAIN THAT IS ATTRIBUTED FROM THE PRESSURE CAUSED BY THE INCREASE IN SIZE OF THE TUMOR.

TYPES OF TREATMENT:

• CURABLE IF DIAGNOSED EARLY, BUT WILL CONTINUE TO NEED CHECKUPS FOR SEVERAL YEARS AFTER TREATMENT.

• SURGERY-REMOVAL OF THE AFFECTED EYE

• CHEMOTHERAPY- POWERFUL MEDICATIONS THAT ARE USED TO DESTROY CANCEROUS CELLS AND/OR STOP THEM FROM SPREADING.

• FOCAL THERAPY- LASER THERAPY OR CRYOTHERAPY (FREEZING) TREATMENTS. THIS IS TYPICALLY USED IN COMBINATION WITH CHEMOTHERAPY.

• STEM CELL TRANSPLANT- REPLACEMENT OF THE CELLS THAT FORM BLOOD IN THE BONE MARROW. THIS IS DONE WHEN THE CANCER HAS SPREAD TO THE BRAIN, THE BONES, OR THE BONE MARROW.

• RADIATION THERAPY- POWERFUL, HIGH ENERGY TYPES OF RADIATION THAT IS USED TO KILL THE CANCEROUS CELLS OR PREVENT THEM FROM GROWING. TYPICALLY USED WITH PATIENTS WHO ARE NON-RESPONSIVE TO OTHER FORMS OF TREATMENT.

• THERMOTHERAPY- HEAT THAT IS USED TO KILL CANCEROUS CELLS.

FUNCTIONAL IMPLICATIONS:

• IF A CHILD HAS SYMPTOMS, THE CHILD SHOULD VISIT A PEDIATRIC OPHTHALMOLOGIST.

• AFTER TREATMENT, IT IS RECOMMENDED THAT THE CHILD WEAR SUNGLASSES WITH U.V. PROTECTION, USE PROTECTIVE EYEWEAR FOR SPORTS OR AROUND THE USE OF POWERFUL EQUIPMENT OR CHEMICALS. THEY SHOULD ALSO AVOID SHARP TOYS AND FIREWORKS.

• IF THE RETINOBLASTOMA IS CAUSED BY DELETIONS IN THE CHROMOSOME 13, THEN IT MAY BE ACCOMPANIED BY OTHER ISSUES SUCH AS INTELLECTUAL DISABILITY (I.D.), SLOW GROWTH, AND/OR DISTINCTIVE FACIAL FEATURES.

• THE CHILD MAY DEVELOP DIFFICULTIES WITH SCHOOL AND LEARNING AS WELL AS EMOTIONAL ISSUES. THE ARD COMMITTEE MAY DETERMINE THAT THE NEED FOR COUNSELING AND/OR A BEHAVIOR INTERVENTION PLAN IS APPROPRIATE BASED ON THE STUDENTS EMOTIONAL NEEDS.

• IT MIGHT BE NECESSARY FOR AN INDIVIDUALIZED EDUCATION PLAN (IEP) TO BE DEVELOPED FOR THE STUDENT AS WELL AS PROVIDING THE STUDENT WITH ACCOMMODATIONS AND MODIFICATIONS SUCH AS LOW VISION DEVICES, BRAILLE, GOOD ILLUMINATION AND USE OF HIGH CONTRAST.

• SINCE THE RETINOBLASTOMA COULD RETURN OR SPREAD TO OTHER PARTS OF THE BODY, IT IS RECOMMENDED THAT THE CHILD CONTINUE WITH REGULAR CHECK UPS AFTER TREATMENT EVERY 2-4 MONTHS FOR SEVERAL YEARS AFTER TREATMENT.

FUNCTIONAL IMPLICATIONS CONTINUED:

• MAJORITY OF CHILDREN TREATED EARLY ARE ABLE TO KEEP BOTH OF THEIR EYES AND CONTINUE TO LEAD NORMAL LIVES

• IF AN EYE IS REMOVED, THE CHILD WILL RECEIVE A PROSTHETIC EYE. RECENT PROSTHETIC EYES LOOK VERY SIMILAR TO THE CHILD’S NATURAL EYE.

• 80% OF CHILDREN TREATED RETAIN 20/20 VISION

• AFTER TREATMENT, THE CHILD MAY RESUME NORMAL ACTIVITY PENDING DOCTOR APPROVAL AND PERMISSION

• FREQUENT CHECK-UPS ARE IMPORTANT AND NECESSARY.

EXAMPLES OF CONDITIONS AFTER TREATMENT

• CATARACTS- CLOUDING OF THE LENS OF THE EYE.

• ENOPHTHALMOS-SUNKEN EYEBALL IN THE ORBIT OF THE EYE

• KERATITIS-INFLAMMATION OF THE CORNEA

• KERATOCONJUNCTIVITIS SICCA- DRYNESS THAT CAUSES INFLAMMATION OF THE CORNEA AND CONJUNCTIVA

• SHRINKING OF THE LACRIMAL DUCT

• OPTIC CHIASM NEUROPATHY- DAMAGE TO THE NERVES THAT ARE RESPONSIBLE FOR SENDING INFORMATION FROM THE EYE TO THE BRAIN.

• XEROPHTHALMIA-SCARRING OF THE TEAR GLANDS.

WHAT HAPPENS IF IT IS LEFT UNTREATED?

• CAN SPREAD THROUGHOUT THE RETINA AND/OR THE VITREOUS FLUID IN THE EYE.

• LARGE TUMORS CAN DIVIDE INTO SMALLER TUMORS AND FURTHER COMPLICATE TREATMENT.

• CAN SPREAD INTO THE TISSUE UNDER THE RETINA AND/OR THE EYE SOCKET, BRAIN, OPTIC NERVE, BONES, AND BONE MARROW.

• DEATH

PICTURES:

NORMAL EYE:EYE AFFECTED BY RETINOBLASTOMA:

REFERENCES:

ST. JUDE CHILDREN RESEARCH HOSPITAL. (N.D.) DISEASE INFORMATION RETINOBLASTOMA. RETRIEVED (JULY 12, 2014) FROM

HTTP://WWW.STJUDE.ORG/RETINOBLASTOMA

MAYO CLINIC. (NOVEMBER 17, 2012) DISEASES AND CONDITIONS RETINOBLASTOMA. RETRIEVED JULY 12, 2014 FROM

HTTP://WWW.MAYOCLINIC.ORG/DISEASES-

CONDITIONS/RETINOBLASTOMA/BASICS/PREPARING-FOR-YOUR-APPOINTMENT/CON-20026228

GENETICS HOME REFERENCE. (JULY 7, 2014) CONDITIONS RETINOBLASTOMA. RETRIEVED JULY 12, 2014 FROM

HTTP://GHR.NLM.NIH.GOV/CONDITION/RETINOBLASTOMA

REFERENCESCURE SEARCH FOR CHILDREN’S CANCER. (SEPTEMBER 2011) EYE CANCER RETINOBLASTOMA IN CHILDREN: AFTER TREATMENT INFORMATION. RETRIEVED JULY 12, 2014 FROM

HTTP://GHR.NLM.NIH.GOV/CONDITION/RETINOBLASTOMA

KIDS HEALTH. (MARCH 2012) RETINOBLASTOMA. RETRIEVED JULY 12, 2014 FROM

HTTP://KIDSHEALTH.ORG/PARENT/MEDICAL/CANCER/RETINOBLASTOMA.HTML#