RetinoblastomaRetinoblastomaAlso known as:

RB

Retinal Glioblastoma

Retinal Glioma

Retinal Neuroblastoma

SPE 516

Linda Hulett, Linda Washburn, & Jennifer Orenic

What is Retinoblastoma?What is Retinoblastoma? Cancer -Cancer - malignant tumors originate in the malignant tumors originate in the

retinaretina 75% of cases75% of cases UnilateralUnilateral (one eye), 25% of cases (one eye), 25% of cases BilateralBilateral (both (both

eyes)eyes)

Life-threatening; fatal if untreatedLife-threatening; fatal if untreated Occurs most often in children before age 5 (2/3 of cases Occurs most often in children before age 5 (2/3 of cases

before age 3)before age 3) Accounts for 3% of cancers in children under age 15Accounts for 3% of cancers in children under age 15 Blindness/loss of vision always resultsBlindness/loss of vision always results Easily confused in initial stages with Easily confused in initial stages with Coat’s DiseaseCoat’s Disease (progressive (progressive

condition of retinal capillaries - occurs in children/young adults; condition of retinal capillaries - occurs in children/young adults; gradual in progress; affects central vision; usually unilateral)gradual in progress; affects central vision; usually unilateral)

Affects children around the world, of all races and Affects children around the world, of all races and gendersgenders(Children in developing countries usually die of metastatic spread)(Children in developing countries usually die of metastatic spread)

How is Retinoblastoma How is Retinoblastoma Detected?Detected?

Most often, Most often, leukocorialeukocoria (white pupilary reflex, or (white pupilary reflex, or “cat’s eye reflex”) is noticed by parents“cat’s eye reflex”) is noticed by parents– Can be seen in photographs Can be seen in photographs – Detected when light is reflected off the eye (i.e. watching Detected when light is reflected off the eye (i.e. watching

television)television)

Clinical Detection of Clinical Detection of RetinoblastomaRetinoblastoma

Indirect ophthalmoscopeIndirect ophthalmoscopeused to help ophthalmologistused to help ophthalmologist

make a fundus drawing (sketch) make a fundus drawing (sketch)

to “map” tumors in the retinato “map” tumors in the retina

Ultrasound of the retinaUltrasound of the retina

CT/MRI scansCT/MRI scans

StrabismusStrabismus (crossed-eye) (crossed-eye)– Exotropia Exotropia -- outward turnedoutward turned– Esotropia Esotropia -- inward turnedinward turned

Red, painful eyeRed, painful eye (pseudouveitis) (pseudouveitis) InflammationInflammation of tissue surrounding of tissue surrounding

eye/orbiteye/orbit Other physical problems, including Other physical problems, including

enlarged/dilated pupil, heterochromiaenlarged/dilated pupil, heterochromia (differently colored irises), (differently colored irises), poor vision, poor vision, malformed ears, extra fingers/toes, mental malformed ears, extra fingers/toes, mental retardation, failure to thriveretardation, failure to thrive (difficulty (difficulty eating/drinking)eating/drinking)

Can lead to other eye conditions, such as Can lead to other eye conditions, such as glaucoma & detached retinaglaucoma & detached retina

Other Potential Warning Other Potential Warning SignsSigns

Progressive, genetic disorderProgressive, genetic disorder 90%+ of cases caused by a spontaneous abnormality 90%+ of cases caused by a spontaneous abnormality

(mutation) in chromosome 13 (specifically, Rb1 gene)(mutation) in chromosome 13 (specifically, Rb1 gene)

How do People Get How do People Get Retinoblastoma?Retinoblastoma?

50% of survivors pass on mutated gene to their children50% of survivors pass on mutated gene to their children

-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

Chromosome 13

Rb1 gene

How is the Visual System How is the Visual System Affected?Affected?

Tumors originate in the retina, Tumors originate in the retina, destroying this light-sensitive destroying this light-sensitive structure of the eye (and with it, structure of the eye (and with it, sight)sight)

Metastases - tumors of the retina can Metastases - tumors of the retina can extend into the choroids, the sclera, extend into the choroids, the sclera, the bony orbit, local lymph nodes, the the bony orbit, local lymph nodes, the optic nerve, and the brainoptic nerve, and the brain

Evaluation & Treatment Evaluation & Treatment TeamTeam

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

OphthalmologisOphthalmologisttOcular Ocular oncologistoncologistPediatricianPediatrician

Medical Medical oncologistoncologistRadiation Radiation oncologistoncologistPathologist Pathologist ParentsParents also play a vital role in choosing the right also play a vital role in choosing the right

therapy for their child.therapy for their child.

Exact course of treatment will be customized to the needs of the 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 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 or both eyes, and whether the cancer has spread to other parts of the body.the body.

The The goals of treatmentgoals of treatment are always: are always:1.1. Saving lifeSaving life

2.2. Maintaining eye/visionMaintaining eye/vision

3.3. Preserving cosmetic Preserving cosmetic appearanceappearance

How is Retinoblastoma How is Retinoblastoma Treated?Treated?

Biopsy usually not necessaryBiopsy usually not necessary Unilateral casesUnilateral cases

– SURGERY -SURGERY - ENUCLEATIONENUCLEATION (removal of the eye - most often (removal of the eye - most often leaving in place the eyebrow, eyelids, and muscles of the eye)leaving in place the eyebrow, eyelids, and muscles of the eye)

Bilateral casesBilateral cases– Sometimes - enucleation of worst eye, radiotherapy on other Sometimes - enucleation of worst eye, radiotherapy on other

eyeeye– DRUG THERAPY - DRUG THERAPY - CHEMOTHERAPYCHEMOTHERAPY + local therapies+ local therapies

Anti-cancer Anti-cancer drugs -drugs - used to manage aggressive retinoblastoma & used to manage aggressive retinoblastoma & to try to prevent metastases - cyclosporine, carboplatin, etoposide, to try to prevent metastases - cyclosporine, carboplatin, etoposide, & vincristine& vincristine

ImmunosuppressantsImmunosuppressants - - immuran, and othersimmuran, and others– LOCAL THERAPIESLOCAL THERAPIES (other medical therapies) - (other medical therapies) -

Laser therapy (photocoagulation or hyperthermia)Laser therapy (photocoagulation or hyperthermia) - - burns/destroys blood vessels surrounding tumorburns/destroys blood vessels surrounding tumor

CryotherapyCryotherapy - - cold gas injected into retina or pen-like probe placed cold gas injected into retina or pen-like probe placed on sclera adjacent to tumor to freeze tumoron sclera adjacent to tumor to freeze tumor

Thermotherapy -Thermotherapy - applying heat to affected area (cancer cells react applying heat to affected area (cancer cells react differently to heat than normal, healthy cells)differently to heat than normal, healthy cells)

Radiotherapy -Radiotherapy -– Gamma radiation (External Beam Radiation Therapy) - riskyGamma radiation (External Beam Radiation Therapy) - risky– Sealed source radiation (radioactive plaques)Sealed source radiation (radioactive plaques)

Special ConsiderationsSpecial Considerations

Diagnosis of cancer often creates fear - families Diagnosis of cancer often creates fear - families may find counseling/support groups helpfulmay find counseling/support groups helpful

Despite high survival rate, many survivors have Despite high survival rate, many survivors have higher risk of developing other cancers (unrelated higher risk of developing other cancers (unrelated to the eye) later in life, especially:to the eye) later in life, especially:– Osteogenic sarcomaOsteogenic sarcoma (bone cancer) (bone cancer)– Soft tissue sarcomasSoft tissue sarcomas– Cutaneous melanomasCutaneous melanomas (tumors of the skin, muscle, and (tumors of the skin, muscle, and

connective tissue)connective tissue)– Other cancersOther cancers caused by chemotherapy and radiotherapy caused by chemotherapy and radiotherapy

Genetic counseling is recommended to discuss Genetic counseling is recommended to discuss high likelihood of passing mutated gene to high likelihood of passing mutated gene to offspringoffspring

After diagnosis of retinoblastoma, screening of After diagnosis of retinoblastoma, screening of siblings is recommended (due to genetic nature)siblings is recommended (due to genetic nature)

95% survival rate in the 95% survival rate in the U.S.U.S.

Functional ImplicationsFunctional Implications

Unilateral retinoblastoma:Unilateral retinoblastoma:– One remaining eye usually has normal visionOne remaining eye usually has normal vision– Affected eye may still have good vision if Affected eye may still have good vision if

treated earlytreated early

Children with retinoblastoma may Children with retinoblastoma may lose vision early in lifelose vision early in life

Those affected will often have decent Those affected will often have decent spatial orientation due to the fact spatial orientation due to the fact that they had some vision early in lifethat they had some vision early in life

Educational programming needsEducational programming needs will will vary from individual to individual, depending on vary from individual to individual, depending on the severity of the case, but will likely involve the severity of the case, but will likely involve the use of tactile and auditory techniques, such the use of tactile and auditory techniques, such as:as:

– Early intervention & training in the use of low vision Early intervention & training in the use of low vision devicesdevices

– Orientation & mobility instruction, if appropriateOrientation & mobility instruction, if appropriate– Close proximity to instructor/activityClose proximity to instructor/activity– Verbal descriptions of visual materialsVerbal descriptions of visual materials– Use of audio notes & taped textsUse of audio notes & taped texts– Large print materials, if appropriateLarge print materials, if appropriate– Braille instruction, if appropriateBraille instruction, if appropriate– Tactile 3-D modelsTactile 3-D models– Raised line drawingsRaised line drawings– Low vision projection screensLow vision projection screens– Assistive technology devices and therapeutic Assistive technology devices and therapeutic

intervention as neededintervention as needed– Other appropriate strategies/interventions used with Other appropriate strategies/interventions used with

blind/low vision students blind/low vision students

Case StudyCase Study 4 year old Australian boy named Dean4 year old Australian boy named Dean 2 siblings - Brent (older) and Blake (younger) - neither with RB diagnosis2 siblings - Brent (older) and Blake (younger) - neither with RB diagnosis Parents noticed eye color changing from blue to green, but noticed that Parents noticed eye color changing from blue to green, but noticed that

color change was different in left eyecolor change was different in left eye Parents took Dean to optometrist; referred to ophthalmologist in Parents took Dean to optometrist; referred to ophthalmologist in

Canberra; referred to children’s hospital in Sydney for surgeryCanberra; referred to children’s hospital in Sydney for surgery Parents stayed at Ronald McDonald House during Dean’s stay in the Parents stayed at Ronald McDonald House during Dean’s stay in the

hospital and found support from family, Ronald McDonald House staff, hospital and found support from family, Ronald McDonald House staff, and hospital religious staffand hospital religious staff

CT scan showed bilateral Retinoblastoma - massive tumor in left eye, pin CT scan showed bilateral Retinoblastoma - massive tumor in left eye, pin head sized tumor in right eyehead sized tumor in right eye

Enucleation recommended for left eye, cryotherapy for right eyeEnucleation recommended for left eye, cryotherapy for right eye After surgery, more disease found on optic nerve of left eye, so After surgery, more disease found on optic nerve of left eye, so

chemotherapy recommendedchemotherapy recommended Dean had issues with his central line (infection), which required acid Dean had issues with his central line (infection), which required acid

treatment to clear up and delayed further chemotherapy treatmentstreatment to clear up and delayed further chemotherapy treatments 66thth (final) course of treatment given just before 5 (final) course of treatment given just before 5thth birthday birthday On 5On 5thth birthday, Dean granted wish from “Make A Wish Foundation,” for birthday, Dean granted wish from “Make A Wish Foundation,” for

golf clubs, golf bag, and buggygolf clubs, golf bag, and buggy 18 mos. after last treatment - no signs of disease18 mos. after last treatment - no signs of disease Dean is in school, doing well, plays soccer, and has adjusted well to vision Dean is in school, doing well, plays soccer, and has adjusted well to vision

lossloss

ReferencesReferencesAbramson, 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