Retinoblastoma Book Section
| Authors: | Levin, A. M.; Francis, J. H.; Abramson, D. H. |
| Editors: | Casper, D. S.; Cioffi, G. A. |
| Article/Chapter Title: | Retinoblastoma |
| Abstract: | Retinoblastoma arises from a loss of function of the RB1 gene (either by loss of heterozygosity or other mechanisms), which is located on the long arm of chromosome 13 (specifically 13q14). Genetic abnormalities range from large deletions to single base changes. The majority of mutations result in premature termination signals. Epigenetic modifications, such as hypermethylation of the RB1 promoter, also occur. Disease development usually requires that both RB1 alleles become inactivated. Retinoblastoma patients and their families benefit from psychosocial support as they navigate treatment and care of the child. Families may express anxiety about their child’s quality of life and schooling; however, they can be reassured that studies have demonstrated that survivors of retinoblastoma can enjoy a quality of life equivalent to their peers’. © Springer Nature Switzerland AG 2019. |
| Keywords: | quality of life; genes; retinoblastoma; heterozygosity; patient treatment; medical computing; biomedical engineering; biochemical engineering; rb1 gene; leukocoria and retinoblastoma; poor vision and retinoblastoma; strabismus and retinoblastoma; leucocoria and retinoblastoma |
| Book Title: | The Columbia Guide to Basic Elements of Eye Care: A Manual for Healthcare Professionals |
| ISBN: | 978-3-030-10885-4 |
| Publisher: | Springer |
| Publication Place: | Cham, Switzerland |
| Date Published: | 2019-01-01 |
| Start Page: | 481 |
| End Page: | 484 |
| Language: | English |
| DOI: | 10.1007/978-3-030-10886-1_42 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | Book chapter: 42 -- Source: Scopus |
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