Purpose: The anatomic location of intraocular retinoblastoma foci was investigated in patients with bilateral retinoblastoma. The study was designed to evaluate the retinal topography of intraocular tumors and their time course of presentation.
Methods: A retrospective study of 565 eyes with bilateral retinoblastoma was conducted. Data included patient age at detection of each tumor and tumor location within the retina. Intraocular location was characterized in three ways: 1) superior versus inferior retina; 2) nasal versus temporal retina; and 3) macular to peripheral retina, defined as four circular zones.
Results: There was a direct correlation between patient age at tumor detection and retinal topography. This relationship followed a central-to-peripheral distribution, with macular tumors presenting earliest and anterior retinal tumors presenting last. Twenty-nine (100%) macular tumors were detected at the time of initial diagnosis, and none presented after 15.5 months of age. When controlled for surface area tumors were located equally in all circular zones.
Conclusion: There is a time course in which tumors in different parts of the retina come to clinical presentation. All macular tumors in this study and the majority of tumors in the posterior pole were detected before age 24 months. The authors provide possible explanations for these findings and their implications for treatment.
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http://dx.doi.org/10.1097/00006982-199616030-00009 | DOI Listing |
Exp Eye Res
January 2025
Genetic Diagnosis Unit, Institute for Rare Diseases Research (IIER), Institute of Health Carlos III (ISCIII), Madrid, Spain; CIBER of Rare Diseases (CIBERER), U758. Institute of Health Carlos III (ISCIII), Madrid, Spain.
Constitutional variants in the RB1 gene predispose individuals to the development of Retinoblastoma (RB) and the occurrence of second tumors in adulthood. Detection of causal RB1 gene variants is essential to establish the genetic diagnosis and to performing familial studies and counseling. In our cohort of 579 Spanish RB patients, 15% of cases suspected to have a genetic origin remained negative after traditional Sanger sequencing and Multiplex Ligation-dependent Probe Amplification (MLPA) of RB1 gene, likely due to the possibility of mosaicism or non-coding variants.
View Article and Find Full Text PDFSemin Ophthalmol
January 2025
Division of Ophthalmology, Hadassah Medical Center, Jerusalem, Israel.
Purpose: Trilateral retinoblastoma (TRB), intracranial neoplasm in heritable retinoblastoma patients, is a very rare fatal disease. Many ocular oncology centers conduct routine screening of retinoblastoma patients by brain imaging. Nevertheless, there is a debate regarding its ability to prolong TRB patients' survival and the number-needed-to-treat.
View Article and Find Full Text PDFA 3-year-old girl treated with intravenous chemotherapy for bilateral retinoblastoma (RB) and a standard technique of intravitreal topotecan for vitreous seeds in the left eye developed a conjunctival nodule at the injection site. Ultrasound biomicroscopy showed normal underlying sclera and ciliary body. Fundus examination of the left eye showed partly calcified vitreous seeds.
View Article and Find Full Text PDFSci Rep
December 2024
Department of Biology, School of Medicine, University of Zagreb, Salata 3, 10000, Zagreb, Croatia.
Retinoblastoma, a rare childhood eye cancer, has hereditary and non-hereditary forms. While TNM classification helps in prognosis, understanding molecular mechanisms is vital for the clinical behavior of retinoblastoma prediction. Our study aimed to analyze the expression levels of key Wnt pathway proteins, GSK3β, LEF1, β-catenin, and DVL1, and associate them to non-phosphorylated active form (pRb) and the phosphorylated inactive form (ppRb) and N-myc expression, in retinoblastoma cells and healthy retinal cells, in order to elucidate their roles in retinoblastoma and identify potential targets that could help to improve diagnostic and therapy.
View Article and Find Full Text PDFFam Cancer
December 2024
Department of Ophthalmology & Visual Sciences, Medical College of Wisconsin, Milwaukee, USA.
Retinoblastoma (RB) is the most common intraocular malignancy in children, and patients with family history of retinoblastoma are at high risk of disease. While intensive screening programs have led to earlier diagnosis and higher rates of globe salvage, visual outcomes have not improved. Handheld optical coherence tomography (HH-OCT) is a non-invasive imaging modality that can be utilized for screening, diagnosis, and monitoring of Familial RB.
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