Differential diagnosis of retinoblastoma and pseudo retinoblastoma
Reviewed by Fiona Rowe

The authors reviewed the rate of pseudo retinoblastoma (PRB) among cases referred for suspicion of RB at a tertiary referral centre in Turkey and the distribution of PRB cases according to age. This was a retrospective study of 549 patients with 769 affected eyes. Age at presentation was 43.1 months (1-396); 58.6% were male. Diagnosis of RB was in 71.6% and PRB in 28.4%. Of RB cases, 55% were male and mean age was 38.6 months (1-396). Of PRB cases, 68% were male and mean age was 52.1 months (1-276). RB disease was bilateral in 42.5%. PRB was bilateral in 34%. PRB cases included Coats disease (16%), persistent fetal vasculature (PFV) (17.3%), chorioretinal coloboma (3.8%), congenital glaucoma (3.8%), familial exudative vitreoretinopathy (FEVR) (3.8%) and optic disc drusen (3.8%). Congenital cataract was only found in 1.3%. Children up to one year were more likely to have PFV, Coats disease, coloboma, retinal dysplasia and retinal detachment. Those aged one to five years were more likely to have Coats disease, PFV and disc hypoplasia. Those older than five were more likely to have Coat’s disease, retinopathy of prematurity (ROP) and combined hamartoma with retinal pigment epithelium. Of 156 patients, 17 (10.9%) eyes were enucleated for neovascular glaucoma, blind painful eye, total retinal detachment, vitreous haemorrhage and intraocular tumor diagnosis other than RB. The authors highlighted that differential diagnosis for RB varies dependent on age but with PFV and Coat’s disease as the main mimics. Differential diagnosis requires careful examination.

The final diagnosis: retinoblastoma or pseudo retinoblastoma.
Mirzayev I, Gunduz AK, Bicer O, Tarlan B.
JOURNAL OF PEDIATRIC OPHTHALMOLOGY AND STRABISMUS
2021;58:161-7.