Pseudoretinoblastoma: Distribution Based on Gender, Age, and Laterality

Purpose: To investigate the distribution of pseudoretinoblastoma (PSRB) cases based on gender, age, and lateralityMethods: The clinical records of 607 patients (851 eyes) who were referred for suspicion of retinoblastoma between October 1998 and May 2021 were retrospectively evaluated. Patients were stratified by age as follows: ≤1 year, >1-3 years, >3-5 years, and >5 years.Results: PSRB conditions were detected in 190/607 (31.3%) patients. Of 190 patients, 129 (67.9%) were males and 61 (32.1%) were females (p=0.001). The 3 most common diagnoses were persistent fetal vasculature (PFV; 16.3%), Coats disease (15.3%), and optic nerve head drusen (ONHD; 5.3%). In males, the 3 most common diagnoses were Coats disease (20.2%), PFV (14.0%), and chorioretinal coloboma (6.2%). The 3 most common diagnoses in females included PFV (21.3%), retinal dysplasia, congenital glaucoma, and combined hamartoma (each accounting for 6.6%). PFV was the most common diagnosis in ≤1 year old patient group (26.6%). Coats disease and PFV were the most common diagnoses in >1-3 years old patient group (16.7%, for each diagnosis). Coats disease was the most common diagnosis in >3-5 years old (30.8%) and >5 years old patient groups (13.1%). PSRBs were unilateral in 121/190 (63.7%) patients and bilateral in 69/190 (36.3%). The most common unilateral and bilateral diagnoses were Coats disease (24.0%) and PFV (24.6%) respectively.Conclusion: In our study, 31.3% of patients referred for suspicion of retinoblastoma received the diagnosis of PSRB. PSRB spectrum encompasses different diseases, the distribution of which differ depending on gender, age, and laterality.

Diagnosis of optic nerve head drusen using enhanced depth imaging optical coherence tomography

Purpose: To evaluate the efficacy of Enhanced Depth Imaging Optical Coherence Tomography (EDI-OCT) in differentiating between optic nerve head drusen (ONHD) and optic disc oedema (ODE). Methods: This was a cross-sectional study of 140 patients: 83 patients with ONHD (49 hidden and 34 visible), 20 patients with pseudopapilloedema (without drusen), and 37 patients with ODE. EDI-OCT of the optic nerve was performed, selecting one high-resolution line from the HD 5-line raster protocol. Two observers blindly evaluated the presence of a hyporeflective core surrounded by a hyperreflective margin or border. The sensitivity, specificity, predictive values and posttest probability were evaluated as well as the inter-observer agreement (k). Results: EDI-OCT demonstrated a sensitivity of 92% (95% CI: 83%–96%), a specificity of 96% (95% CI: 87%–99%), with a positive predictive value of 97% and a negative predictive value of 89%. The inter-observer agreement was as remarkable as k = 0.8985 (95% CI 0.8252–0.9718). A positive EDI OCT increases the posttest probability to 97% (95% CI: 91%–99%); when negative, the posttest probability is reduced to 12% (95% CI: 6%–21%). Conclusion: EDI-OCT allowed for differentiation between ONHD and ODE with high sensitivity and specificity.