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Retinoblastoma (RB) is the most common primary intraocular malignant tumor of childhood. Persistent or recurrent vitreous seeding is the most common reason for therapeutic failure in advanced RB. Intravitreal chemotherapy has emerged as an effective therapy for vitreous seeding in RB, with a generally acceptable safety profile. However, intravitreal chemotherapeutics, especially melphalan, can cause toxicity that may progress to total retinal atrophy. In this report, we present two cases with retinal melphalan toxicity that had varied clinical findings. One of the cases had extensive retinal atrophy that was demonstrated by hand-held spectral domain optical coherence tomography (HHSD-OCT), while the other had normal retinal anatomy on HHSD-OCT but markedly diminished retinal function on flash electroretinography., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Purpose: To report wide-field fundus imaging and fluorescein angiography findings in conditions mimicking retinoblastoma (pseudoretinoblastoma)., Methods: The clinical and imaging records of 28 patients (36 eyes) imaged with RetCam 3 (Clarity Medical Systems, Inc) wide-field fundus photography and fluorescein angiography who were diagnosed as having various pseudoretinoblastoma disorders between February 2020 and August 2021 were retrospectively evaluated., Results: Most patients were referred with suspicion of retinoblastoma. Other patients had unresolved eye conditions and received initial treatment elsewhere and they were referred later for exclusion of retinoblastoma. On RetCam fundus photography and fluorescein angiography, pseudoretinoblastoma conditions were diagnosed as Coats disease (9 eyes), congenital glaucoma (3 eyes), persistent fetal vasculature (3 eyes), familial exudative vitreoretinopathy (2 eyes), retinopathy of prematurity (2 eyes), myelinated retinal nerve fibers (2 eyes), optic nerve hypoplasia (2 eyes), oculocutaneous albinism (2 eyes), meridional fold (2 eyes), combined hamartoma of retina and retinal pigment epithelium (2 eyes), grouped congenital hypertrophy of the retinal pigment epithelium (1 eye), retinal astrocytic hamartoma (1 eye), morning glory syndrome (1 eye), optic glioma (1 eye), giant choroidal nevus (1 eye), vasculitis (1 eye), and chorioretinitis (1 eye). RetCam imaging and fluorescein angiography demonstrated telangiectasias, microaneurysms, submacular exudation/fibrosis, capillary non-perfusion, and exudation posterior to telangiectasias in Coats disease. Hypofluorescent optic discs, peripheral non-perfusion, and vascular leakage were observed in congenital glaucoma. Large areas of capillary non-perfusion, poor foveal morphology/formation, elongated ciliary processes with hyperfluorescent central core, and hyperfluorescent fibrovascular stalk at the posterior pole were hallmarks of persistent fetal vasculature., Conclusions: RetCam wide-field fundus imaging and fluorescein angiography play an important role in the diagnosis of conditions simulating retinoblastoma. [ J Pediatr Ophthalmol Strabismus . 2023;60(1):60-74.] .

Purpose: To investigate the distribution of pseudoretinoblastoma (PSRB) cases based on gender, age, and laterality., Materials and Methods: The clinical records of 607 patients (851 eyes) who were referred for diagnosis of retinoblastoma or simulating conditions 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: Of 190/607 PSRB patients, 129 (67.9%) were males and 61 (32.1%) females ( p  = 0.001). The 3 most common diagnoses in males were Coats disease (20.2%), persistent fetal vasculature (PFV, 14.0%), and chorioretinal coloboma (6.2%). In females, the 3 most common diagnoses included PFV (21.3%), retinal dysplasia, congenital glaucoma, and combined hamartoma (each 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 (each 16.7%). 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. Coats disease usually presented unilaterally (p < 0.001) while PFV, optic nerve head drusen, and retinopathy of prematurity as bilateral diseases ( p  = 0.019, p  = 0.001, and p  = 0.001 respectively)., Discussion: PSRB diagnoses show differences depending on gender, age, and laterality. In our study, the most common PSRB lesions were Coats disease in males and PFV in females. PFV was the most frequent diagnosis in ≤3 years and Coats disease in >3 years of age groups. Coats disease and PFV were the most common unilateral and bilateral PSRB diagnoses respectively.

Purpose: To evaluate the risk factors leading to recurrence and new tumor (NT) development in patients with retinoblastoma after intravenous chemotherapy (IVC) and to review the treatment outcomes., Materials and Methods: The records of 166 retinoblastoma cases (having 246 affected eyes) who underwent six-cycle IVC (vincristine, etoposide, and carboplatin) as primary treatment between October 1999 and August 2020 were reviewed retrospectively., Results: The mean ages at presentation were 9.0 (median: 8.0) and 9.2 (median: 8.5) months in cases with recurrence and NTs respectively. Recurrence was detected in 40 (16.3%) eyes, NTs in 29 (11.8%), and both recurrence/NTs in 24 (9.8%). The mean time elapsed till recurrence and NT was 10.7 months. Multivariable analysis showed that the factors predictive of recurrence were largest tumor base diameter (LTBD) >12 mm ( p  = 0.039) and presence of subretinal seeds at diagnosis ( p  = 0.043). Multivariable risk factors for the development of NTs were bilateral familial retinoblastoma ( p  = 0.001) and presence of subretinal seeds at diagnosis ( p  = 0.010). Mean follow-up was 80.1 (median: 72.5) months. By Kaplan-Meier analysis, the 1-, 3-, and 6-year recurrence and NT rates were 21.2%, 28.1%, and 28.7% and 14.9%, 22.6%, and 23.9% respectively. The most common treatment methods used for recurrent and/or NTs included cryotherapy, transpupillary thermotherapy, and intra-arterial chemotherapy. Enucleation was eventually required in 24/93 (25.8%) eyes. No patient developed metastasis., Discussion: Development of recurrence and/or NT after IVC was noted in 38% of all retinoblastoma eyes. Bilateral familial disease, LTBD >12 mm, and presence of subretinal seeds at baseline were risk factors for recurrence and NTs in this study.

Purpose: To evaluate the results of secondary intra-arterial chemotherapy (IAC) and/or intravitreal chemotherapy (IVC) as a salvage treatment for retinoblastoma (RB)., Materials and Methods: The medical records of 31 (20 male, 11 female) cases (with 38 eyes) who underwent secondary IAC and/or IVC between February 2010 and June 2019 were retrospectively reviewed., Results: Thirteen (41.9%) cases had unilateral and 18 (58.1%) had bilateral RB. According to the International Classification of RB, 6 (15.8%) eyes had group B, 9 (23.7%) eyes had group C, 16 (42.1%) eyes had group D, and 7 (18.4%) eyes had group E RB at diagnosis. All patients underwent six-cycle intravenous chemotherapy as primary treatment and 8 eyes received external radiotherapy before IAC/IVC. Secondary IAC was performed in 21 (55.3%) eyes, IVC in 10 (26.3%) eyes, and IAC + IVC in 7 (18.4%) eyes. External radiotherapy was applied in 2 (5.3%) eyes after IAC/IVC, one of which was later enucleated. In total, 17 (44.7%) eyes undergoing secondary IAC/IVC treatments were enucleated. Metastasis and death were not observed in any case during the mean follow-up period of 59.3 (median 61, range: 10-98) months., Discussion: Although 60.5% of the eyes undergoing IAC/IVC consisted of groups D and E RB, globe salvage and survival rates were 55.3% and 100.0%, respectively. External radiotherapy was required in 5.3% of the eyes after IAC/IVC. In conclusion, IAC and IVC are safe and effective treatment methods in eyes with RB unresponsive to other eye-preserving treatments and those demonstrating recurrence.

Purpose: To review the authors' experience in the diagnosis of retinoblastoma and to explore the frequency of intraocular conditions that mimic this malignancy according to patient age at presentation., Methods: This was a retrospective observational study including 549 patients (769 eyes) who were referred for confirmation and/or management of retinoblastoma between October 1998 and June 2019 at a single tertiary center. A detailed ocular examination was done by the same ocular oncologist under general anesthesia for every patient., Results: Of 549 patients referred for diagnostic confirmation or management of retinoblastoma, 393 (71.6%) patients were found to have retinoblastoma and 156 (28.4%) patients received the diagnosis of pseudoretinoblastoma. The mean patient age at presentation was 52.1 months, ranging from 1 to 276 months. The most common diagnoses among patients with pseudoretinoblastoma younger than 1 year were persistent fetal vasculature (PFV) (n = 19; 28.8%), Coats disease (n = 7; 10.6%), chorioretinal coloboma (n = 4; 6.1%), retinal dysplasia (n = 4; 6.1%), and retinal detachment (n = 4; 6.1%). In patients with pseudoretinoblastoma who were 1 to 5 years old, the most common diagnoses were Coats disease (n = 10; 25.6%), PFV (n = 7; 17.9%), and optic disc hypoplasia (n = 3; 7.7%). Patients older than 5 years were most likely to have Coats disease (n = 8; 15.7%), optic disc drusen (n = 5; 9.8%), retinopathy of prematurity (n = 4; 7.8%), and combined hamartoma (n = 4; 7.8%)., Conclusions: This study shows that 28.4% of patients referred for suspicion or management of retinoblastoma were classified as having pseudoretinoblastoma. The most common conditions causing diagnostic confusion with retinoblastoma included PFV and Coats disease, similar to previous publications from both high-and low-income countries. [ J Pediatr Ophthalmol Strabismus . 2021;58(3):161-167.] .

Objectives: To evaluate the long-term treatment outcomes in intraocular retinoblastoma (RB) including the associated factors for eventual treatment with external beam radiotherapy (EBRT) and enucleation as well as to analyse the risk factors for metastasis and death in extraocular RB., Methods: Retrospective analysis of 390 eyes from 256 (89.8%) intraocular RB and 29 (10.2%) extraocular RB cases diagnosed and treated between October 1998 and May 2018 at one of the largest tertiary care centers in Turkey., Results: Of 351 intraocular RB eyes, 53.3% had group D/E disease at presentation. 75 (21.4%) of 351 eyes underwent primary enucleation. Of the remaining 276 eyes undergoing eye-conserving treatments, 201 (72.8%) were salvaged. Most of these eyes were treated using intravenous chemotherapy and/or focal treatments [transpupillary thermotherapy (TTT) and cryotherapy] initially. EBRT was eventually required in 48 (17.4%) eyes and secondary enucleation in 75 (27.2%) eyes. At mean follow-ups of 76.7 and 39.7 months for intraocular and extraocular RB cohorts, respectively, 180 (46.2%) eyes underwent primary/secondary enucleation and exenteration. Overall, 13 cases developed metastasis and 9 died. Two patients with trilateral RB also expired. Multivariable risk factors for enucleation were the presence of vitreous seeds (p < 0.001), absence of EBRT administration (p = 0.033), 5-9 TTT applications compared with no TTT (p = 0.031), and each 1 mm increase in tumour base diameter (p < 0.001). Univariate factors predictive of metastasis were the presence of extraocular RB detected by imaging methods (p < 0.001) and extrascleral/optic nerve cut end involvement at histopathological examination (p < 0.001)., Conclusions: In our series, 72.8% of the intraocular RB eyes undergoing eye-conserving treatments were saved. The globe salvage rate for all intraocular and extraocular RB eyes was 53.8% and the overall survival rate was 96.1%.