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Retinoblastoma

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					 Retinoblastoma

Presentation by Hannah Konicki
               What is it?
            Retinoblastoma is…

           • Cancer of the retina
• Generally affects children under the age of
                       6
 • Most commonly diagnosed in children 1-2
                 years of age
            The Retina Is…
• The retina is the nerve tissue that lines the
         inside of the back of the eye
                   Causes
• Cell of the growing retina develops a
  mutation

  – Cells grow out of control/become cancerous


• If it runs in the family
  – 50% chance that an affected person's children
    will have the mutation
                 RB1 Gene
• Retinoblastoma Protein
  – Tumor suppressor protein
  – Dysfunctional to many cancers
  – Both alleles mutated early in life, the protein is
    inactivated (causing retinoblastoma)
• It is not known why an eye cancer results
  from a mutation in a gene that is important
  all over the body.
             Gene Mutation
Mutations prevent RB1 from making any
 functional protein
  – unable to regulate cell division effectively
  – Cells in the retina divide uncontrollably to form
    cancerous tumors.
               Inheritance
• 40% of all Retinoblastomas are bilateral
  – Cases were hereditary
• Hereditary retinoblastoma represents
  cancer predisposition syndrome
  – Someone carrying an RB1 gene mutation has a
    greater than 90% risk of developing
    retinoblastoma
  – Higher risk of other cancers
              Inheritance
 • Retinoblastoma that occurs in only one
        eye is usually not inherited.

• Retinoblastoma that occurs in both eyes is
              always inherited.
                 Symptoms
•   White glow in the eye
•   White or red spots in the pupil
•   Crossed-eyed
•   Red, painful eye
•   Poor vision
•   Different colored iris’s in each eye
                   Diagnosis
• Biopsies are not usually done to diagnose
  retinoblastoma because
  – can be recognized with great accuracy by
    doctors
  – A biopsy cannot be done easily without
    harming the eye
     • risks spreading the cancer cells
           Treatment
• Chemotherapy as a primary treatment
          • Laser therapy
           • Cryotherapy
            – Freezes tumors
            • Enucleation
    • External Beam Radiotherapy
             Survival Rate
• With early diagnosis the survival rate is
  over 90%
• Untreated, Retinoblastoma is fatal
               Summary
• Cancer of the retina—usually in children
  under six years old
• Mutation of the RB1 Gene
• 40% inherited
• In both eyes—always passed down
• Glow, redness, cross eyed, poor vision,
  two colors
• Chemo, laser, cryo—therapies,
  eunucleation, external beam radiotherapy
                    Sources
• http://www.eyecancermd.org/retinoblastoma/treatment.ht
  ml
• http://ghr.nlm.nih.gov/condition=retinoblastoma
• https://health.google.com/health/ref/Retinoblastoma
• http://www.cancer.org/docroot/CRI/content/CRI_2_4_3X
  _How_is_retinoblastoma_diagnosed_37.asp
• http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1586012/
• http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?bo
  ok=gnd&part=retinoblastoma

				
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posted:7/28/2011
language:English
pages:14