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					Retinoblastoma
  Also known as:
    RB
    Retinal Glioblastoma
    Retinal Glioma
    Retinal Neuroblastoma

          SPE 516
          Linda Hulett, Linda Washburn, & Jennifer Orenic
            What is Retinoblastoma?
   Cancer - malignant tumors originate in the retina
   75% of cases Unilateral (one eye), 25% of cases Bilateral (both eyes)
   Life-threatening; fatal if untreated
   Occurs most often in children before age 5 (2/3 of cases
    before age 3)
   Accounts for 3% of cancers in children under age 15
   Blindness/loss of vision always results
   Easily confused in initial stages with Coat’s Disease (progressive condition
    of retinal capillaries - occurs in children/young adults; gradual in
    progress; affects central vision; usually unilateral)
   Affects children around the world, of all races and genders
     (Children in developing countries usually die of metastatic spread)
    How is Retinoblastoma Detected?
   Most often, leukocoria (white pupilary reflex, or “cat’s eye
    reflex”) is noticed by parents
    – Can be seen in photographs
    – Detected when light is reflected off the eye (i.e. watching television)
Clinical Detection of Retinoblastoma
   Indirect ophthalmoscope
       used to help ophthalmologist
       make a fundus drawing (sketch)
       to “map” tumors in the retina



   Ultrasound of the retina

   CT/MRI scans
Other Potential Warning Signs
   Strabismus (crossed-eye)
    – Exotropia - outward turned
    – Esotropia - inward turned
 Red, painful eye (pseudouveitis)
 Inflammation of tissue surrounding eye/orbit
 Other physical problems, including
  enlarged/dilated pupil, heterochromia
  (differently colored irises), poor vision,
  malformed ears, extra fingers/toes, mental
  retardation, failure to thrive (difficulty
  eating/drinking)
 Can lead to other eye conditions, such as
  glaucoma & detached retina
How do People Get Retinoblastoma?
   Progressive, genetic disorder
   90%+ of cases caused by a spontaneous abnormality
    (mutation) in chromosome 13 (specifically, Rb1 gene)
                                  Rb1 gene
                    Chromosome 13




          -Provides instructions for making a tumor suppressing
          protein (regulates cell division by keeping cells from
          growing and dividing too fast or in an uncontrolled way)

          -Part of this gene is missing or does not function properly

   50% of survivors pass on mutated gene to their children
How is the Visual System Affected?
   Tumors originate in the retina, destroying
    this light-sensitive structure of the eye
    (and with it, sight)

   Metastases - tumors of the retina can
    extend into the choroids, the sclera, the
    bony orbit, local lymph nodes, the optic
    nerve, and the brain
    Evaluation & Treatment Team
Patients with retinoblastoma should be evaluated and treated
  by a team of medical professionals, including:
             Ophthalmologist           Medical oncologist
             Ocular oncologist         Radiation oncologist
             Pediatrician              Pathologist
Parents also play a vital role in choosing the right therapy for
their child.
Exact course of treatment will be customized to the needs of the child and
will depend on the child’s age, the involvement of one or both eyes, and
whether the cancer has spread to other parts of the body.

The goals of treatment are always: 1. Saving life
                                           2. Maintaining eye/vision
                                           3. Preserving cosmetic
                                              appearance
How is Retinoblastoma Treated?
   Biopsy usually not necessary
   Unilateral cases
    – SURGERY - ENUCLEATION (removal of the eye - most often leaving
      in place the eyebrow, eyelids, and muscles of the eye)
   Bilateral cases
    – Sometimes - enucleation of worst eye, radiotherapy on other eye
    – DRUG THERAPY - CHEMOTHERAPY + local therapies
         Anti-cancer drugs - used to manage aggressive retinoblastoma & to try to
          prevent metastases - cyclosporine, carboplatin, etoposide, & vincristine
         Immunosuppressants - immuran, and others
    – LOCAL THERAPIES (other medical therapies) -
         Laser therapy (photocoagulation or hyperthermia) - burns/destroys
          blood vessels surrounding tumor
         Cryotherapy - cold gas injected into retina or pen-like probe placed on
          sclera adjacent to tumor to freeze tumor
         Thermotherapy - applying heat to affected area (cancer cells react
          differently to heat than normal, healthy cells)
         Radiotherapy -
             – Gamma radiation (External Beam Radiation Therapy) - risky
             – Sealed source radiation (radioactive plaques)
           Special Considerations
              95% survival rate in the U.S.

   Diagnosis of cancer often creates fear - families may find
    counseling/support groups helpful
   Despite high survival rate, many survivors have higher
    risk of developing other cancers (unrelated to the eye)
    later in life, especially:
    – Osteogenic sarcoma (bone cancer)
    – Soft tissue sarcomas
    – Cutaneous melanomas (tumors of the skin, muscle, and
      connective tissue)
    – Other cancers caused by chemotherapy and radiotherapy
   Genetic counseling is recommended to discuss high
    likelihood of passing mutated gene to offspring
   After diagnosis of retinoblastoma, screening of siblings is
    recommended (due to genetic nature)
          Functional Implications
   Unilateral retinoblastoma:
    – One remaining eye usually has normal vision
    – Affected eye may still have good vision if treated early

   Children with retinoblastoma may lose
    vision early in life

   Those affected will often have decent
    spatial orientation due to the fact that they
    had some vision early in life
   Educational programming needs will vary
    from individual to individual, depending on the
    severity of the case, but will likely involve the use of
    tactile and auditory techniques, such as:

    – Early intervention & training in the use of low vision devices
    – Orientation & mobility instruction, if appropriate
    – Close proximity to instructor/activity
    – Verbal descriptions of visual materials
    – Use of audio notes & taped texts
    – Large print materials, if appropriate
    – Braille instruction, if appropriate
    – Tactile 3-D models
    – Raised line drawings
    – Low vision projection screens
    – Assistive technology devices and therapeutic intervention as
      needed
    – Other appropriate strategies/interventions used with
      blind/low vision students
                            Case Study
   4 year old Australian boy named Dean
   2 siblings - Brent (older) and Blake (younger) - neither with RB diagnosis
   Parents noticed eye color changing from blue to green, but noticed that color
    change was different in left eye
   Parents took Dean to optometrist; referred to ophthalmologist in Canberra; referred
    to children’s hospital in Sydney for surgery
   Parents stayed at Ronald McDonald House during Dean’s stay in the hospital and
    found support from family, Ronald McDonald House staff, and hospital religious
    staff
   CT scan showed bilateral Retinoblastoma - massive tumor in left eye, pin head sized
    tumor in right eye
   Enucleation recommended for left eye, cryotherapy for right eye
   After surgery, more disease found on optic nerve of left eye, so chemotherapy
    recommended
   Dean had issues with his central line (infection), which required acid treatment to
    clear up and delayed further chemotherapy treatments
   6th (final) course of treatment given just before 5th birthday
   On 5th birthday, Dean granted wish from “Make A Wish Foundation,” for golf clubs,
    golf bag, and buggy
   18 mos. after last treatment - no signs of disease
   Dean is in school, doing well, plays soccer, and has adjusted well to vision loss
                           References
Abramson, D. H., M.D. (2002). A Parent’s Guide to Understanding Retinoblastoma. Retrieved
     June 28, 2007, from http://retinoblastoma.com/frameset1.htm

Aventura, M. L., M.D. (Feb. 16, 2006). Retinoblastoma. Retrieved June 28, 2007, from
     eMedicine: http://www.emedicine.com/OPH/topic346.htm

Cassin, B. (2006). Dictionary of Eye Terminology (M. L. Rubin, M.D., Ed.). Gainesville, FL: Triad
      Publishing Co.

Dean’s Story. (Feb. 15, 1999). Retrieved June 30, 2007, from Retinoblastoma Support Group
     Newsletter website: http://homepage.idx.com.au/muznsam/newsletter.html#Dean's

Retinoblastoma (PDQ®). (July 21, 2006). Retrieved June 28, 2007, from National Cancer
     Institute website:
     http://www.cancer.gov/cancertopics/pdq/treatment/retinoblastoma/healthprofessional/

Retinoblastoma. (n.d.). Retrieved June 28, 2007, from Wikipedia:
     http://en.wikipedia.org/wiki/Retinoblastoma

				
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