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% |
Specialty: Genetics
ICD-10: ,