BACKGROUND Clinical genetic testing is becoming an integral part of medical care for inherited disorders. While genetic testing and counseling are readily available in high-income countries, in low- and middle-income countries like Kenya genetic testing is limited and genetic counseling is virtually non-existent. Genetic testing is likely to become widespread in Kenya within the next decade, ye...

Trilateral retinoblastoma (TRb) is a rare combination of unilateral or bilateral retinoblastoma with an ectopic midline intracranial neuroblastic neoplasm (primitive neuroectodermal tumour) usually in the area of pineal gland or sellar region. TRb can occur with both familial and sporadic forms of retinoblastoma. An occurrence of this rare tumour in a 12-year-old boy who had unilateral retinobl...

AIM To evaluate the association between Down syndrome and retinoblastoma. METHOD Presentation of a case report and review of the literature. RESULTS A retinoblastoma was observed in a 10-month-old boy with Down syndrome. A review of the literature yielded 14 other cases, suggesting a possible excess of retinoblastoma in Down syndrome, as previously proposed by two epidemiological studies. T...

PURPOSE Preclinical studies demonstrate that cardiac glycosides such as ouabain and digoxin have antitumor effects on retinoblastoma cells in vitro and in a xenograft murine model of retinoblastoma. METHODS Based on these findings, we report a case of intra-arterial followed by systemic oral digoxin therapy in a patient with unilateral retinoblastoma that had failed prior intra-arterial chemo...

Retinoblastoma is the most common intraocular cancer of childhood, however, only a few cultured retinoblastoma cell lines are available to date. In the present study, we established a new human retinoblastoma cell line with adherent growth, named SNUOT-Rb1. The SNUOT-Rb1 cell line was established from an eye with retinoblastoma, which was enucleated from a 3-year-old Korean child. SNUOT-Rb1 has...

Dentre os tumores primários malignos da infância, destaca-se o retinoblastoma, neoplasia ocular primária muito comum nessa faixa etária. No entanto, é considerado como um desafio para países em desenvolvimento, visto que diagnóstico acaba sendo tardio por conta de fatores socioeconômicos e demográficos. Este estudo objetiva identificar principais sinais sintomas do determinar tempo médio entre ...

PURPOSE To describe the experience of the Ophthalmology Department of Hospital São João (HSJ), a tertiary health care center in North Region, Portugal, in terms of the diagnosis, treatment, and follow-up of retinoblastoma. METHODS This was a retrospective study of patients diagnosed with retinoblastoma in Hospital São João, between 1978 and 2012. RESULTS Fifty patients with retinoblastoma w...

A registry including information about nearly 1,600 cases of retinoblastoma diagnosed in Britain has been created at the Childhood Cancer Research Group. Cases have been classified as 'old germ cell mutation', 'new germ cell mutation' or 'sporadic non-hereditary'. For a population-based group of 918 cases diagnosed between 1962 and 1985 we have calculated the proportions of unilateral/bilateral...

Retinoblastoma is the most common primary intraocular malignancy of infancy and childhood with an incidence of 1 in every 20,000 live births.1 During the 20th century, retinoblastoma was uniformly fatal. Early diagnosis and recent advances in the management of retinoblastoma particularly the use of chemo-therapy have improved the prognosis of this fatal disease. Although this neoplasm has one o...