Download Retinoblastoma

Retinoblastoma
Also known as:
RB
Retinal Glioblastoma
Retinal Glioma
Retinal Neuroblastoma
SPE 516
Linda Hulett, Linda Washburn, & Jennifer Orenic
What is Retinoblastoma?
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Cancer - malignant tumors originate in the retina
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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
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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)
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Affects children around the world, of all races and genders
(Children in developing countries usually die of metastatic spread)
How is Retinoblastoma Detected?
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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
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Indirect ophthalmoscope
used to help ophthalmologist
make a fundus drawing (sketch)
to “map” tumors in the retina
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Ultrasound of the retina
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CT/MRI scans
Other Potential Warning Signs
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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?
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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
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50% of survivors pass on mutated gene to their children
How is the Visual System Affected?
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Tumors originate in the retina, destroying
this light-sensitive structure of the eye
(and with it, sight)
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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
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 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?
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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)
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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.
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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
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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
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Unilateral retinoblastoma:
– One remaining eye usually has normal vision
– Affected eye may still have good vision if treated early
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Children with retinoblastoma may lose
vision early in life
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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:
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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
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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