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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 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? 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