Rare Diseases Symptoms Automatic Extraction

Lesions simulating retinoblastoma (pseudoretinoblastoma) in 604 cases: results based on age at presentation.

[coats disease]

To determine the types and frequency of ocular conditions that simulate retinoblastoma (pseudoretinoblastoma) based on age at presentation.Retrospective case series.Two thousand seven hundred seventy-five patients.Chart review.Conditions simulating retinoblastoma.Of 2775 patients referred for management of retinoblastoma, 2171 patients (78%) had confirmed retinoblastoma and 604 patients (22%) had simulating lesions (pseudoretinoblastomas). In the pseudoretinoblastoma cohort, the mean patient age at presentation was 4 years (median, 2 years). There were 27 different pseudoretinoblastoma conditions, and the 10 most common included Coats' disease (n = 244; 40%), persistent fetal vasculature (PFV; n = 158; 28%), vitreous hemorrhage (n = 27; 5%), ocular toxocariasis (n = 22; 4%), familial exudative vitreoretinopathy (FEVR; n = 18; 3%), rhegmatogenous retinal detachment (n = 18; 3%), coloboma (n = 17; 3%), astrocytic hamartoma (n = 15; 2%), combined hamartoma of retina and retinal pigment epithelium (n = 15; 2%), and endogenous endophthalmitis (n = 10; 2%). Simulating lesions differed based on age at presentation, and children younger than 1 year were most likely to have PFV (49%), Coats' disease (20%), or vitreous hemorrhage (7%); those 2 to 5 years of age were most likely to have Coats' disease (61%), toxocariasis (8%), or PFV (7%); and those older than 5 years were most likely to have Coats' disease (57%), toxocariasis (8%), or FEVR (6%).The most common pseudoretinoblastomas include Coats' disease, PFV, and vitreous hemorrhage, but the spectrum varies depending on patient age.