title: Knowledge of genetics in familial retinoblastoma.
abstract: 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.
  
  
  
  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).
  
  
  
  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 contrast to all parents with a child proband (4/4, 100%; p = 0.004). Early eye screening was significantly associated with lower tumor burden (p = 0.03), lower treatment burden (p = 0.04), higher rate of ocular salvage (p = 0.01), and better visual outcome (p = 0.01).
  
  
  
  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.
authors.affiliation: a Ophthalmology Department, Faculty of Medicine , Alexandria University , Alexandria , Egypt.|b Department of Ophthalmology & Vision Sciences , University of Toronto , Toronto , Ontario , Canada.|c Division of Clinical Public Health , University of Toronto , Toronto , Ontario , Canada.
authors.forename: Sameh E
authors.initials: SE
authors.lastname: Soliman
authors.affiliation: a Ophthalmology Department, Faculty of Medicine , Alexandria University , Alexandria , Egypt.
authors.forename: Mostafa
authors.initials: M
authors.lastname: ElManhaly
authors.affiliation: b Department of Ophthalmology & Vision Sciences , University of Toronto , Toronto , Ontario , Canada.|c Division of Clinical Public Health , University of Toronto , Toronto , Ontario , Canada.|d Department of Ophthalmology & Vision Sciences , The Hospital for Sick Children , Toronto , Ontario , Canada.|e Department of Human Pathology , College of Health Sciences, University of Nairobi , Nairobi , Kenya.
authors.forename: Helen
authors.initials: H
authors.lastname: Dimaras
mesh_terms: D002675:Child, Preschool; D003906:Developing Countries; D015353:Eye Enucleation; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D007194:India; D007223:Infant; D007231:Infant, Newborn; D040582:Inheritance Patterns; D008297:Male; D010287:Parent-Child Relations; D010290:Parents / Q000193:education*; D010375:Pedigree; D019572:Retinal Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D012175:Retinoblastoma / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D056286:Retinoblastoma Binding Proteins / Q000235:genetics; D012189:Retrospective Studies; D044767:Ubiquitin-Protein Ligases / Q000235:genetics
chemical_list: C000606393:RB1 protein, human; D056286:Retinoblastoma Binding Proteins; D044767:Ubiquitin-Protein Ligases
keywords: Cancer; developing countries; familial; genetic counseling; low-and-middle income countries; retinoblastoma; socioeconomics