The probability of an RB1 germline mutation can be predicted in a proband with retinoblastoma based on clinical findings. The authors are from the University of Essen.
Parameters:
(1) family history
(2) unilateral or bilateral retinoblastoma
(3) unifocal vs multifocal
where:
• Multifocal disease must exclude metastases from a primary focus.
• A single ocular focus plus an extraocular second primary is included as multifocal disease.
Family History
Laterality
Focality
Probability
negative
unilateral
unifocal
15%
negative
unilateral
multifocal
15 – 90%
negative
bilateral
NA
90%
positive
unilateral
unifocal
100%
positive
unilateral
multifocal
100%
positive
bilateral
NA
100%
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