Importance: Early diagnosis of retinoblastoma, the most common intraocular cancer, can save both a child's life and vision. However, anecdotal evidence suggests that many children across the world are diagnosed late. To our knowledge, the clinical presentation of retinoblastoma has never been assessed on a global scale.
View Article and Find Full Text PDFBackground/aims: The presence of a posterior vitreous detachment (PVD) may play a role in the development of severe retinal toxicity following intravitreal melphalan (IVM) injection for vitreous seeding. We aimed to evaluate the incidence of PVD in retinoblastoma eyes and its association with retinal toxicity after IVM.
Methods: We reviewed 112 eyes of 81 retinoblastoma patients with B-scan images available for review from 2010 to 2017.
Purpose: To describe late apical relapse of a choroidal melanoma at the site of fine needle aspiration biopsy 10 years following successful treatment with I brachytherapy.
Methods: Retrospective case report of a 78-year-old male presenting 10 years following successful I brachytherapy for a choroidal melanoma with a medium-sized nodular amelanotic tumor recurrence at the site of the prior tumor biopsy.
Results: Fundus photography and B-scan ultrasound documented the findings at presentation at our institution.
Purpose: To review long-term outcomes of the University of Southern California Plaque Simulator (PS) software and Eye Physics (EP) plaques. We hypothesize that the PS/EP system delivers lower doses to critical ocular structures, resulting in lower rates of radiation toxicity and favorable visual outcomes compared to Collaborative Ocular Melanoma Study plaques, while maintaining adequate local tumor control.
Methods And Materials: Retrospective review of 133 patients treated for choroidal melanoma with I brachytherapy, using PS software and EP plaques, from 1990 through 2015.
Tumor-derived cell-free DNA (cfDNA) has biomarker potential; therefore, this study aimed to identify cfDNA in the aqueous humor (AH) of retinoblastoma eyes and correlate somatic chromosomal copy-number alterations (SCNA) with clinical outcomes, specifically eye salvage. AH was extracted via paracentesis during intravitreal injection of chemotherapy or enucleation. Shallow whole-genome sequencing was performed using isolated cfDNA to assess for highly recurrent SCNAs in retinoblastoma including gain of 1q, 2p, 6p, loss of 13q, 16q, and focal amplification.
View Article and Find Full Text PDFJ Pediatr Ophthalmol Strabismus
April 2018
Germline partial chromosomal deletions of the entire RB1 gene (13q deletions), account for 6% of the RB1 mutational spectrum. The authors report the rare case of one patient with suspected bilateral iris heterochromia who actually had iris hypoplasia (often masquerading as heterochromia) and bilateral retinoblastoma, due to 13q deletion syndrome. [J Pediatr Ophthalmol.
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