Journal ArticleDOI
Knowledge of genetics in familial retinoblastoma.
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TLDR
Parental knowledge of retinoblastoma nature and heritability is crucial to good patient outcomes, but translating this knowledge into appropriate action (i.e. screening of at-risk children) is still deficient.Abstract:
Purpose: To evaluate knowledge of retinoblastoma inheritance among parents of children with familial retinoblastoma, and to compare this to timing of eye examination for at-risk children, disease severity at diagnosis, treatment burden, and outcome.Methods: A retrospective review of familial retinoblastoma cases that presented at Alexandria Main University Hospital was performed. Primary outcome measures were parental knowledge of familial retinoblastoma (disease, heritability) and subsequent action (early screening or not) and their impact on tumor burden (classification at diagnosis, potential threat to vision, ocular salvage, and life), treatment burden, and treatment success (avoidance of enucleation and irradiation).Results: Twenty-three eyes of 13 familial retinoblastoma cases were included. Probands were parents in 9 (69%) and older siblings in 4 (31%) cases. At time of diagnosis of the first affected children, none (0%) of the parental probands knew that newborns should be screened, in con...read more
Citations
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Journal ArticleDOI
Genetics and Molecular Diagnostics in Retinoblastoma--An Update.
Sameh E. Soliman,Sameh E. Soliman,Hilary Racher,Chengyue Zhang,Heather MacDonald,Brenda L. Gallie +5 more
TL;DR: The concepts of retinoblastoma genetics for ophthalmologists in a question/answer format to assist in the care of patients and their families are summarized.
Journal ArticleDOI
Prenatal versus Postnatal Screening for Familial Retinoblastoma.
Sameh E. Soliman,Sameh E. Soliman,Helen Dimaras,Vikas Khetan,Vikas Khetan,Jane Gardiner,Jane Gardiner,Helen S. L. Chan,Elise Héon,Elise Héon,Brenda L. Gallie +10 more
TL;DR: When a parent had retinoblastoma, prenatal molecular diagnosis with early-term delivery increased the likelihood of infants born with no detectable tumors, better vision outcomes, and less invasive therapy.
Journal ArticleDOI
Familial Retinoblastoma: Raised Awareness Improves Early Diagnosis and Outcome.
TL;DR: Awareness of families of the possibility of retinoblastoma and adequate screening led to a significantly higher rate of eye salvage in patients with familial retinOBlastoma.
Journal ArticleDOI
Clinical presentation of retinoblastoma in Alexandria: A step toward earlier diagnosis
Sameh E. Soliman,Sameh E. Soliman,Wesam Eldomiaty,Mohamed Bahgat Goweida,Amgad Mostafa Dowidar +4 more
TL;DR: Delayed diagnosis is a problem affecting retinoblastoma management and better medical education and training, health education and earlier screening are recommended to achieve earlier diagnosis.
Journal ArticleDOI
Precision laser therapy for retinoblastoma
Sameh E. Soliman,Stephanie N. Kletke,Kelsey A. Roelofs,Cynthia VandenHoven,Leslie Mckeen,Brenda L. Gallie +5 more
TL;DR: Hand-held OCT now adds precision to put laser in the forefront in achieving cure of retinoblastoma, and the physical and optical properties of lasers, mechanisms of action, delivery systems and complications are described.
References
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Journal ArticleDOI
Intraocular retinoblastoma: the case for a new group classification.
TL;DR: The case for the creation of a new group classification of intraocular retinoblastoma is argued, based on the natural history and the risk of loss of the eye following primary therapy, against the current Reese-Ellsworth group classification.
Journal ArticleDOI
Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies.
Diane Rushlow,Berber M. Mol,Jennifer Y. Kennett,Stephanie Yee,Stephanie Yee,Sanja Pajovic,Brigitte L. Thériault,Nadia L. Prigoda-Lee,Clarellen Spencer,Helen Dimaras,Timothy W. Corson,Renee Pang,Christine Massey,Roseline Godbout,Zhe Jiang,Eldad Zacksenhaus,Eldad Zacksenhaus,Katherine E. Paton,Annette C. Moll,Claude Houdayer,Anthony Raizis,William Halliday,Wan L. Lam,Paul C. Boutros,Dietmar R. Lohmann,Josephine C. Dorsman,Brenda L. Gallie +26 more
TL;DR: These unilateral RB1(+/+)MYCN(A) retinoblastomas are characterised by distinct histological features, only a few of the genomic copy-number changes that are characteristic of retinOBlastoma, and very early age of diagnosis.
Journal ArticleDOI
One Hit, Two Hits, Three Hits, More? Genomic Changes in the Development of Retinoblastoma
TL;DR: This review provides the first comprehensive summary of the genomic evidence implicating gain of 1q, 2p, 6p, and 13q, and loss of 16q in retinoblastoma oncogenesis, including karyotype, CGH, and microarray CGH data.
Journal ArticleDOI
Late diagnosis of retinoblastoma in a developing country
TL;DR: Paediatricians are the first health professional seen by most children with retinoblastoma, however, the diagnosis is not readily established and there is a delay in consultation by parents, which is significantly longer in cases with advanced extraocular disease.
Journal ArticleDOI
Detection of mosaic RB1 mutations in families with retinoblastoma.
Diane Rushlow,Beata Piovesan,Katherine Zhang,Nadia L. Prigoda-Lee,Mellone N. Marchong,Mellone N. Marchong,Robin D. Clark,Brenda L. Gallie +7 more
TL;DR: It is shown that the use of linkage analysis in a two‐generation retinoblastoma family resulted in the erroneous conclusion that a child carried the parental mutation, because the founder parent was mosaic for the RB1 mutation.