Table 1

Detection of plasma RB1 cell-free DNA (cfDNA) in pseudoretinoblastoma lesions

DiagnosisNo of cfDNA cases# or Number positive for RB1
Coats disease150
PHPV/PFV20
Retinal detachment30
Vitreous haemorrhage20
Iris pigmentation20
Embryonal rhabdomyosarcoma10
Alveolar rhabdomyosarcoma10
Medulloepithelioma10
Small round blue cell tumour/Iris10
Retinoma20
Hamartoma RPE/astrocytic1/10
Coloboma10
Melanoma/choroid (child)10
Iris cyst20
Nevus/choroid (child)10
Cataract (child)10
FEVR20