Table 3.

Retinoblastoma: Recommended Surveillance for Individuals at Risk and Affected Individuals

System/ConcernEvaluationFrequency
Persons w/RB1 germline pathogenic variant (H1)
  • Eye exam under anesthesia (in young children)
  • Clinical eye exams w/o anesthesia once children are cooperative w/exam
  • Every 3-4 wks until age 6 mos
  • Every 2 mos from age 6 mos-3 yrs
  • Every 3-6 mos from age 3-7 yrs
  • Annually from age 7-10 yrs
  • Every 2 yrs from age 10 yrs

Prompt clinical investigation of any signs/symptoms of subsequent non-ocular malignant neoplasms 1

Ongoing education of affected persons & caregivers w/clinical investigation as needed
Persons w/unilateral retinoblastoma w/o germline RB1 pathogenic variant (H0*) 2
  • Clinical eye exam (w/o anesthesia)
  • Eye ultrasound
  • Every 3-6 mos from diagnosis to 7 yrs
  • Every 2 yrs from age 7 yrs
Persons w/retinoma(s)
  • Retinal exams
  • Photographic imaging to detect any change early
Every 1-2 yrs
Non-ocular tumors Prompt clinical investigation of any signs/symptoms of malignant neoplasms 1
1.

Total-body MRI at regular intervals is under investigation to determine when the technology will be specific and sensitive enough for screening for subsequent malignant neoplasms in persons with a heterozygous germline RB1 pathogenic variant.

2.

H0* individuals are at risk for low-level mosaicism and can develop a tumor in the other eye [Temming et al 2013].

From: Retinoblastoma

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