Ophthalmology Book

Pediatrics

  • Retinoblastoma

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Retinoblastoma

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  1. Definition
    1. Childhood intraocular tumor
  2. Epidemiology
    1. Rare malignant tumor of retina
    2. Incidence: 1 in 20,000 live births
    3. Average age of diagnosis: 12-18 months old
    4. Possible hereditary etiology
  3. Pathophysiology
    1. Retinal germ cell tumor (neuroblastic tumor)
    2. Tumor invades vitreous or grows beneath retina
    3. Disease occurs when RB protein gene inactivated
      1. Retinoblastoma (RB) Protein is tumor suppressor
        1. Coded on Chromosome 13, region 14
        2. Protein absent if both alleles inactivated
      2. Mutation inherited in 40% of cases
        1. Spontaneous onset in 60%
  4. Signs: Screen at every well child check in first 3 years
    1. Pupillary Light Reflex by direct ophthalmoscope
      1. White (Leukokoria) replaces Red Reflex (60% of cases)
    2. Strabismus testing
    3. Other findings
      1. Eye irritation (redness or tearing)
      2. Glaucoma
      3. Hyphema
      4. Corneal Opacification
  5. Imaging
    1. Ultrasound of orbits is preferred imaging modality
    2. Ultrasound demonstrates calcification in retinoblastoma
  6. Differential Diagnosis
    1. See Leukokoria
  7. Management
    1. Small tumors without vitreous seeding
      1. Laser photocoagulation
      2. Cryotherapy (esp. anterior tumors)
    2. Large tumors
      1. Radiation (Plaques or external beam)
      2. Enucleation (>50% intraocular volume or extension)
    3. Metastases
      1. Systemic Chemotherapy
  8. Associated conditions
    1. Strabismus (25%)
    2. Second malignancy before age 50
      1. Risk if 50% if retinoblastoma from germline mutation
      2. Higher risk if radiation therapy (esp. age <1 year)
      3. Associated tumors
        1. Sarcoma
        2. Osteogenic Sarcoma
        3. Melanoma
  9. Prognosis
    1. Uniformly fatal without treatment
    2. Survival of primary tumor with treatment: 90%
    3. High risk of secondary tumor (Osteogenic Sarcoma)
    4. Survival increases if diagnosed before age 2 years
  10. Screening
    1. General population of children under age 3
      1. Red Reflex Exam at delivery and each well child exam
    2. Family History of retinoblastoma
      1. Genetic counseling for parents prior to conception
        1. Consider Retinoblastoma gene testing
      2. Red Reflex
        1. Monthly for first year
        2. Every other month for ages 2-3 years
  11. References
    1. Berson (1987) Ophthalmology Study Guide, AAO, p. 95-110
    2. Abramson (1998) J Pediatr 132:5.5
    3. Essman (1992) Am Fam Physician 46(4):1243
    4. Melamud (2006) Am Fam Physician 73:1039
    5. Mills (1999) Am Fam Physician 60(3):907
    6. Shields (1999) J Pediatr Ophthalmol {a 6387} 36:8
    7. Simon (2001) Am Fam Physician 64(4):623

Retinoblastoma (C0035335)

Definition (MSH)A malignant tumor arising from the nuclear layer of the retina that is the most common primary tumor of the eye in children. The tumor tends to occur in early childhood or infancy and may be present at birth. The majority are sporadic, but the condition may be transmitted as an autosomal dominant trait. Histologic features include dense cellularity, small round polygonal cells, and areas of calcification and necrosis. An abnormal pupil reflex (leukokoria); NYSTAGMUS, PATHOLOGIC; STRABISMUS; and visual loss represent common clinical characteristics of this condition. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2104)
Definition (CSP)malignant congenital blastoma, occurring in both hereditary and sporadic forms, composed of tumor cells arising from the retinoblasts; the most common tumor of the eye in children.
Definition (NCI)An eye cancer that most often occurs in children younger than 5 years. It occurs in hereditary and nonhereditary (sporadic) forms.
Definition (NCI)A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.
Definition (NCI)A neuroblastoma arising from the retina.
ConceptsNeoplastic Process (T191)
EnglishNeuroblastoma of Retina, Neuroblastoma of the Retina, RB, Retinal Glioblastoma, Retinal Glioblastomas, Retinal Glioma, Retinal Gliomas, Retinal Neuroblastoma, Retinal Neuroblastomas, Retinoblastoma, Retinoblastomas
Spanishmorfología de retinoblastoma, morfologia de retinoblastoma, retinoblastoma
CreditsDerived from the NIH UMLS (Unified Medical Language System)



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