Retinoblastoma

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Retinoblastoma
Also known as RB Retinal Glioblastoma Retinal
Glioma Retinal Neuroblastoma
SPE 516 Linda Hulett, Linda Washburn, Jennifer
Orenic
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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 Coats
  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)

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How is Retinoblastoma Detected?

• Most often, leukocoria (white pupilary reflex, or
  cats eye reflex) is noticed by parents
• Can be seen in photographs
• Detected when light is reflected off the eye
  (i.e. watching television)

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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

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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

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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

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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

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Evaluation Treatment Team

• Patients with retinoblastoma should be evaluated
  and treated by a team of medical professionals,
  including

• Ophthalmologist
• Ocular oncologist
• Pediatrician

• Medical oncologist
• Radiation oncologist
• 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 childs 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

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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)

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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)

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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

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• 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

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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
  childrens hospital in Sydney for surgery
• Parents stayed at Ronald McDonald House during
  Deans 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

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References
Abramson, D. H., M.D. (2002). A Parents 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. Deans
Story. (Feb. 15, 1999). Retrieved June 30, 2007,
from Retinoblastoma Support Group Newsletter
website http//homepage.idx.com.au/muznsam/newsle
tter.htmlDean's Retinoblastoma (PDQ). (July
21, 2006). Retrieved June 28, 2007, from National
Cancer Institute website http//www.cancer.gov
/cancertopics/pdq/treatment/retinoblastoma/healthp
rofessional/ Retinoblastoma. (n.d.). Retrieved
June 28, 2007, from Wikipedia http//en.wikiped
ia.org/wiki/Retinoblastoma