Retinoblastoma
Última actualización 8 Sept 2020
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Retinoblastoma is a rare type of eye cancer that usually develops in early childhood, typically before the age of 5. This form of cancer develops in the retina, which is the specialized light-sensitive tissue at the back of the eye that detects light and colour.
Descripción
Retinoblastoma is a rare type of eye cancer that usually develops in early childhood, typically before the age of 5. This form of cancer develops in the retina, which is the specialized light-sensitive tissue at the back of the eye that detects light and colour.
In children with retinoblastoma, the disease often affects only one eye. However, one out of three children with retinoblastoma develops cancer in both eyes. The most common first sign of retinoblastoma is a visible whiteness in the pupil called "cat's eye reflex" or leukocoria. This unusual whiteness is particularly noticeable in dim light or in photographs taken with a flash. Other signs and symptoms of retinoblastoma include crossed eyes or eyes that do not point in the same direction (strabismus), which can cause squinting; a change in the colour of the colored part of the eye (iris); redness, soreness, or swelling of the eyelids; and blindness or poor vision in the affected eye or eyes.
Retinoblastoma is often curable when it is diagnosed early. However, if it is not treated promptly, this cancer can spread beyond the eye to other parts of the body. This advanced form of retinoblastoma can be life-threatening.
When retinoblastoma is associated with a genetic change (mutation) that occurs in all of the body's cells, it is known as hereditary (or germinal) retinoblastoma. People with this form of retinoblastoma typically develop cancer in both eyes and also have an increased risk of developing several other cancers outside the eye. Specifically, they are more likely to develop a cancer of the pineal gland in the brain (pineoblastoma), a type of bone cancer known as osteosarcoma, cancers of soft tissues (such as muscle) called soft tissue sarcomas, and an aggressive form of skin cancer called melanoma.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
Glioma, retinal
RB
Related patient information and medicines
Patient information leaflet
Retinoblastoma
Retinoblastoma is an uncommon cancer of the eye which occurs in children under the age of 5. This leafle... Retinoblastoma is a tumour which usually affects children aged under 5. Most commonly, it affects children aged under 2, including newborn babies. It is a tumour of the nerve layer of the retina, which is the light-sensitive membrane at the.
Patient information leaflet
Problemas oculares
This leaflet contains a list of conditions which affect the eye, grouped together by the part of the eye which is affected or involved. Eye surface conditions: conjunctiva, cornea and ... However, they include melanoma (which typically affects the choroid layer and is usually a tumour of later life) and retinoblastoma. Retinoblastoma.
Patient information leaflet
Cánceres infantiles
Childhood cancer is rare and is much less common than cancer in adults. Problems with development in the womb Some childhood cancers such as a type of kidney cancer (Wilms' tumour) and a type of eye cancer (retinoblastoma) start before the baby is born. Retinoblastoma Retinoblastoma is a type of cancer that afecta el lining of the eye (retina)..
Patient information leaflet
Estrabismo en niños
The eye which is 'off direction' may turn to point inwards, outwards, upwards or downwards. However, in some cases, a squint is one feature of a genetic or brain condition that also affects the child in other ways. Squints can occur in some children with cerebral palsy , Noonan's syndrome, Down's syndrome , hydrocephalus, brain injury or tumour ,.
Patient information leaflet
Exámenes físicos de recién nacidos
Your baby will have a head to toe examination by a healthcare professional (usually a doctor) within the first three days (or 72 hours) of birth. A very similar examinat... Looking into your baby's eyes with a light. This is to look for cataracts and retinoblastoma. This is a rare type of eye cancer. Examining your baby's head including their.
Patient information leaflet
cáncer de hueso primario
Primary bone cancer occurs where a cancer originates in a bone. It is a rare type of cancer. This is a non-cancerous (benign) bone tumour which occasionally turns into a chondrosarcoma. Certain rare inherited disorders including: Li-Fraumeni syndrome, hereditary multiple exostoses (HME) and hereditary retinoblastoma. Ollier's disease.
Lecturas adicionales y referencias
- Retinoblastoma; MedlinePlus, National Library of Medicine.
- Baud O, Cormier-Daire V, Lyonnet S, Desjardins L, Turleau C, Doz F. Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion. Clin Genet. 1999 Jun;55(6):478-82. doi: 10.1034/j.1399-0004.1999.550614.x.
- Corson TW, Gallie BL. One hit, two hits, three hits, more? Genomic changes in the development of retinoblastoma. Genes Chromosomes Cancer. 2007 Jul;46(7):617-34. doi: 10.1002/gcc.20457.
- De Falco G, Giordano A. pRb2/p130: a new candidate for retinoblastoma tumor formation. Oncogene. 2006 Aug 28;25(38):5333-40. doi: 10.1038/sj.onc.1209614.
- Ewens KG, Bhatti TR, Moran KA, Richards-Yutz J, Shields CL, Eagle RC, Ganguly A. Phosphorylation of pRb: mechanism for RB pathway inactivation in MYCN-amplified retinoblastoma. Cancer Med. 2017 Mar;6(3):619-630. doi: 10.1002/cam4.1010. Epub 2017 Feb 17.
- Lohmann DR, Gallie BL. Retinoblastoma. 2000 Jul 18 [updated 2023 Sep 21]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1452/
- Madhavan J, Ganesh A, Kumaramanickavel G. Retinoblastoma: from disease to discovery. Ophthalmic Res. 2008;40(5):221-6. doi: 10.1159/000128578. Epub 2008 Apr 29.
- Mallipatna A, Marino M, Singh AD. Genetics of Retinoblastoma. Asia Pac J Ophthalmol (Phila). 2016 Jul-Aug;5(4):260-4. doi: 10.1097/APO.0000000000000219.
- Poulaki V, Mukai S. Retinoblastoma: genetics and pathology. Int Ophthalmol Clin. 2009 Winter;49(1):155-64. doi: 10.1097/IIO.0b013e3181924bc2. No abstract available.
- Rushlow DE, Mol BM, Kennett JY, Yee S, Pajovic S, Theriault BL, Prigoda-Lee NL, Spencer C, Dimaras H, Corson TW, Pang R, Massey C, Godbout R, Jiang Z, Zacksenhaus E, Paton K, Moll AC, Houdayer C, Raizis A, Halliday W, Lam WL, Boutros PC, Lohmann D, Dorsman JC, Gallie BL. Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies. Lancet Oncol. 2013 Apr;14(4):327-34. doi: 10.1016/S1470-2045(13)70045-7. Epub 2013 Mar 13.
- Schefler AC, Abramson DH. Retinoblastoma: what is new in 2007-2008. Curr Opin Ophthalmol. 2008 Nov;19(6):526-34. doi: 10.1097/ICU.0b013e328312975b.
- Sippel KC, Fraioli RE, Smith GD, Schalkoff ME, Sutherland J, Gallie BL, Dryja TP. Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling. Am J Hum Genet. 1998 Mar;62(3):610-9. doi: 10.1086/301766.
- Soliman SE, Dimaras H, Khetan V, Gardiner JA, Chan HS, Heon E, Gallie BL. Prenatal versus Postnatal Screening for Familial Retinoblastoma. Ophthalmology. 2016 Dec;123(12):2610-2617. doi: 10.1016/j.ophtha.2016.08.027. Epub 2016 Oct 3.
- Soliman SE, Racher H, Zhang C, MacDonald H, Gallie BL. Genetics and Molecular Diagnostics in Retinoblastoma--An Update. Asia Pac J Ophthalmol (Phila). 2017 Mar-Apr;6(2):197-207. doi: 10.22608/APO.201711.
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