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Retinoblastoma, Pediatric

Sheila Thampi, MD and Bertil Damato, MD, PhD, FRCOphth Reviewed 10/2018
 


BASICS

DESCRIPTION

Retinoblastoma is a malignant tumor of the retina and is the most common intraocular tumor in children. It is caused by an RB1 gene mutation at 13q14, which can be germline or somati...

DIAGNOSIS

HISTORY

Parents often report noticing a white color in the pupil, eye(s) turning inward or outward, and poor vision. 

PHYSICAL EXAM

  • Most common presenting signs include the following:

    • Leukocoria

    • ...

TREATMENT

MEDICATION

  • Systemic chemotherapy allows preservation of the globe and prevention of systemic metastasis.

  • Systemic chemotherapy is combined with local retinal therapy to enhance local tumor con...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Patient Monitoring

  • Patients should be followed regularly by an ocular oncologist for EUAs to monitor for reoccurrence and for adjustment for the orbital implant if...

ADDITIONAL READING

  • Abramson DH, Schefler AC. Update on retinoblastoma. Retina.  2004;24(6):828–848. [View Abstract on OvidInsights]

  • Dimaras H, Corson TW, Cobrinik D, et al. Retinoblastoma. Nat Rev...

CODES

ICD9

190.5 Malignant neoplasm of retina 

ICD10

  • C69.20 Malignant neoplasm of unspecified retina

  • C69.21 Malignant neoplasm of right retina

  • C69.22 Malignant neoplasm of left retina

SNOMED

370967009 Retino...

FAQ

  • Q: Are children with retinoblastoma at risk for developmental delays?

  • A: Children who carry RB1 gene mutations should be followed closely for developmental delays with speech and/or motor skills. C...

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