II. Definition

  1. Childhood intraocular tumor

III. 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

IV. 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%

V. 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

VI. Imaging

  1. Ultrasound of orbits is preferred imaging modality
  2. Ultrasound demonstrates calcification in Retinoblastoma

VII. Differential Diagnosis

VIII. 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

IX. 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

X. 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

XI. 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

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Related Studies

Ontology: Retinoblastoma (C0035335)

Definition (NCI_NCI-GLOSS) Cancer that forms in the tissues of the retina (the light-sensitive layers of nerve tissue at the back of the eye). Retinoblastoma usually occurs in children younger than 5 years. It may be hereditary or nonhereditary (sporadic).
Definition (NCI) A neuroblastoma arising from the retina.
Definition (NCI_CDISC) A malignant neoplasm originating in the nuclear layer of the retina.
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 (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 (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)
Concepts Neoplastic Process (T191)
MSH D012175
ICD10 M9510/3
SnomedCT 19906005, 189935007, 189934006, 154553002, 134191003, 269614001, 370967009
English Retinoblastomas, RETINOBLASTOMA, RB - Retinoblastoma, Glioblastoma, Retinal, Glioblastomas, Retinal, Glioma, Retinal, Gliomas, Retinal, Neuroblastoma, Retinal, Neuroblastomas, Retinal, Retinal Glioblastoma, Retinal Glioblastomas, Retinal Glioma, Retinal Gliomas, Retinal Neuroblastomas, Retinoblastoma NOS, [M]Retinoblastoma NOS, [M]Retinoblastomas, Retinoblastoma (M-95103), malignant retinoblastoma of eye (diagnosis), retinoblastoma (diagnosis), retinoblastoma, malignant retinoblastoma of eye, Retinoblastoma [Disease/Finding], Eye Cancer, Retinoblastoma, disorders retinoblastoma, retinoblastomas, [M]Retinoblastomas (morphologic abnormality), [M]Retinoblastoma NOS (morphologic abnormality), RB, RETINOBLASTOMA, MALIGNANT, Retinoblastoma - morphology, Retinoblastoma (disorder), Retinoblastoma (morphologic abnormality), Retinoblastoma, NOS, Retinoblastoma, Retinal Neuroblastoma, Neuroblastoma of Retina, Neuroblastoma of the Retina
French RETINOBLASTOME, Rétinoblastome SAI, Rétinoblastome, Rétinoglioblastome, Gliome de la rétine, Gliome rétinien
Portuguese RETINOBLASTOMA, Retinoblastoma NE, Glioblastoma Retiniano, Glioma Retiniano, Neuroblastoma Retiniano, Retinoblastoma
Dutch retinoblastoom NAO, retinoblastoom, Blastoom, retino-, Glioblastoom, retinaal, Glioom, retinaal, Neuroblastoom, retinaal, Retinoblastoom
German Retinoblastom NNB, Glioblastom, retinales, Gliom, retinales, Glioma retinae, Neuroblastom, retinales, Neuroblastoma retinae, Retinoblastom
Italian Retinoblastoma NAS, Glioma retinico, Retinoblastoma
Spanish Retinoblastoma NEOM, [M]retinoblastoma, SAI (anomalía morfológica), [M]retinoblastoma, SAI, [M]retinoblastomas (anomalía morfológica), [M]retinoblastomas, morfología de retinoblastoma, retinoblastoma (anomalía morfológica), retinoblastoma (trastorno), retinoblastoma, Retinoblastoma, Glioblastoma Retiniano, Glioma Retiniano, Neuroblastoma Retiniano
Swedish Retinoblastom
Czech retinoblastom, Retinoblastom, Retinoblastom NOS
Finnish Retinoblastooma
Polish Siatkówczak, Siatkówczak złośliwy
Hungarian Retinoblastoma k.m.n., Retinoblastoma
Japanese 神経膠腫-網膜, 網膜芽細胞腫, 網膜芽細胞腫NOS, モウマクガサイボウシュ, モウマクガサイボウシュNOS, 網膜神経膠腫, 網膜芽腫
Norwegian Retinoblastom, Retinalt nevroblastom, Retinalt gliom, Netthinneblastom, Retinalt glioblastom