Retinoblastoma history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[3] Simrat Sarai, M.D. [4]
Overview
The hallmark of retinoblastoma is leukocoria which is an abnormal appearance of the retina as viewed through the pupil, also known as amaurotic cat's eye reflex. Other common symptoms include strabismus and proptosis. The clinical presentation depends on the stage of the disease.
History and Symptoms
History
- History of a patient with retinoblastoma may be include the following factors:[1]
- Perinatal history of:
- Pregnancy complications
- Early birth
- Low birth weight
- Use of oxygen
- Personal history of:
- Exposure to pets
- Recent trauma
- Systemic illness
- Family history of:
- Genetic disease
- Blindness
- Eye surgery due to a tumor
- Visual problems in the childhood (amblyopia)
- Perinatal history of:
- Clinical features of retinoblatoma are approximately the same in variable studies and the common findings are as follow:[2][3][4]
- Abnormal appearance of the pupil (leukocoria, also known as amaurotic cat's eye reflex), (Please see below).
- Deviation of look to one side (strabismus) (especially when the macula is involved)
- Decreased vision
- Painful red eye
- Loss of vision
- Presenting symptoms in adult onset of the tumor are insidious and are such as:[5]
- Advanced and/or metastatic form of the tumor also presents with constitutional symptoms such as:
- Patients with retinoblastoma may also present with delay in developmental milestones and intellectual disability which may be perceived by their caregivers.[7]
- Intellectual disability may be the result of accompanying disease or with no clear reason.
- Chromosome 13q14 deletion may cause retinoblastoma and intellectual disability.
- Retinoblastoma has been also reported in a patient with Fragile x syndrome.
References
- ↑ Shields CL, Shields JA, Baez K, Cater JR, De Potter P (February 1994). "Optic nerve invasion of retinoblastoma. Metastatic potential and clinical risk factors". Cancer. 73 (3): 692–8. PMID 8299091.
- ↑ Chebbi A, Bouguila H, Boussaid S, Ben Aleya N, Zgholi H, Malek I, Zeghal I, Nacef L (June 2014). "[Clinical features of retinoblastoma in Tunisia]". J Fr Ophtalmol (in French). 37 (6): 442–8. doi:10.1016/j.jfo.2014.01.009. PMID 24792399.
- ↑ Abramson DH, Beaverson K, Sangani P, Vora RA, Lee TC, Hochberg HM, Kirszrot J, Ranjithan M (December 2003). "Screening for retinoblastoma: presenting signs as prognosticators of patient and ocular survival". Pediatrics. 112 (6 Pt 1): 1248–55. PMID 14654593.
- ↑ Shifa, Jemal Zeberga; Gezmu, Alemayehu Mekonnen (2017). "Presenting signs of retinoblastoma at a tertiary level teaching hospital in Ethiopia". Pan African Medical Journal. 28. doi:10.11604/pamj.2017.28.66.11199. ISSN 1937-8688.
- ↑ Khetan, Vikas; Sengupta, Sabyasachi; Pan, Utsab (2016). "Adult onset retinoblastoma". Indian Journal of Ophthalmology. 64 (7): 485. doi:10.4103/0301-4738.190099. ISSN 0301-4738.
- ↑ Image courtesy of Dr. Frank Gaillard Radiopaedia (original file [1]).[http://radiopaedia.org/licence Creative Commons BY-SA-NC
- ↑ Clark, Robin D.; Avishay, Stefanie G. (2015). "Retinoblastoma: Genetic Counseling and Testing": 77–88. doi:10.1007/978-3-662-43451-2_8.