Retinoblastoma history and symptoms: Difference between revisions

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Latest revision as of 23:59, 29 July 2020

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. Common symptoms of retinoblastoma 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 include the:^[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 in the setting of a tumor
  - Visual problems in the childhood (amblyopia)

Symptoms

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)
- Deviation of the eye 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 can include:^[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 an 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.

[pmid8299091-1] 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.

[pmid24792399-2] 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.

[pmid14654593-3] 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.

[ShifaGezmu2017-4] 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.

[KhetanSengupta2016-5] 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.

[radio1-6] Image courtesy of Dr. Frank Gaillard Radiopaedia (original file [1]).[http://radiopaedia.org/licence Creative Commons BY-SA-NC

[ClarkAvishay2015-7] Clark, Robin D.; Avishay, Stefanie G. (2015). "Retinoblastoma: Genetic Counseling and Testing": 77–88. doi:10.1007/978-3-662-43451-2_8.

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@@ Line 1: / Line 1: @@
-{{CMG}}
+__NOTOC__
 {{Retinoblastoma}}
+{{CMG}}; {{AE}} {{Sahar}} {{Simrat}}
 ==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. A positive family history of retinoblastoma may be present. Less common symptoms of retinoblastoma include deterioration of vision, a red and irritated eye, eye pain, squint, proptosis and fever.
+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. Common [[symptoms]] of retinoblastoma include [[strabismus]] and [[proptosis]]. The [[clinical]] presentation depends on the [[Cancer staging|stage]] of the [[disease]].
+==History and Symptoms==
-==History==
+===History===
+*History of a [[patient]] with retinoblastoma may include the:<ref name="pmid8299091">{{cite journal |vauthors=Shields CL, Shields JA, Baez K, Cater JR, De Potter P |title=Optic nerve invasion of retinoblastoma. Metastatic potential and clinical risk factors |journal=Cancer |volume=73 |issue=3 |pages=692–8 |date=February 1994 |pmid=8299091 |doi= |url=}}</ref>
-==Common Symptoms==
+**[[Perinatal period|Perinatal]] history of:
-The most common symptoms of retinoblastoma include
+***[[Pregnancy complications]]
-:*The pupil often appears white or pink when you shine a light in a child's eye.
+***[[Prematurity|Early birth]]
-:*Lazy eye ([[strabismus]]): Both eyes do not appear to look in the same direction.
+***[[Low birth weight]]
-:*Vision problems
+***Use of [[oxygen]]
-:*Eye pain
+**Personal history of:
-:*Redness of the white part of the eye
+***Exposure to pets
-:*A pupil that does not get smaller when exposed to bright light
+***Recent [[trauma]]
+***[[Systemic]] illness
-==Less Common Symptoms==
+**[[Family history]] of:
-:*Pain and inflammation
+***[[Genetic diseases|Genetic disease]]
-Emergency referral to an Opthalmologist is warranted when a child presents with Leukocoria or Strabismus.
+***[[Blindness]]
+***[[Enucleation|Eye surgery in the setting of a tumor]]
+***[[Visual disturbance|Visual problems]] in the [[childhood]] ([[amblyopia]])
+===Symptoms===
+*[[Clinical]] [[Features (pattern recognition)|features]] of retinoblatoma are approximately the same in variable studies and the common findings are as follow:<ref name="pmid24792399">{{cite journal |vauthors=Chebbi A, Bouguila H, Boussaid S, Ben Aleya N, Zgholi H, Malek I, Zeghal I, Nacef L |title=[Clinical features of retinoblastoma in Tunisia] |language=French |journal=J Fr Ophtalmol |volume=37 |issue=6 |pages=442–8 |date=June 2014 |pmid=24792399 |doi=10.1016/j.jfo.2014.01.009 |url=}}</ref><ref name="pmid14654593">{{cite journal |vauthors=Abramson DH, Beaverson K, Sangani P, Vora RA, Lee TC, Hochberg HM, Kirszrot J, Ranjithan M |title=Screening for retinoblastoma: presenting signs as prognosticators of patient and ocular survival |journal=Pediatrics |volume=112 |issue=6 Pt 1 |pages=1248–55 |date=December 2003 |pmid=14654593 |doi= |url=}}</ref><ref name="ShifaGezmu2017">{{cite journal|last1=Shifa|first1=Jemal Zeberga|last2=Gezmu|first2=Alemayehu Mekonnen|title=Presenting signs of retinoblastoma at a tertiary level teaching hospital in Ethiopia|journal=Pan African Medical Journal|volume=28|year=2017|issn=1937-8688|doi=10.11604/pamj.2017.28.66.11199}}</ref>
+**Abnormal appearance of the [[pupil]] ([[leukocoria]], also known as amaurotic cat's [[Red reflex|eye reflex]])
+**Deviation of the eye 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 can include:<ref name="KhetanSengupta2016">{{cite journal|last1=Khetan|first1=Vikas|last2=Sengupta|first2=Sabyasachi|last3=Pan|first3=Utsab|title=Adult onset retinoblastoma|journal=Indian Journal of Ophthalmology|volume=64|issue=7|year=2016|pages=485|issn=0301-4738|doi=10.4103/0301-4738.190099}}</ref>
+**[[Vision loss]]
+**[[Floater|Perception of shadows in the visual field]]
+**[[Eye Pain|Pain]] and [[Red eye|redness]]
+[[File:Retinoblastoma leukocoria.jpeg |thumb|none|200px|T2 MRI showing retinoblastoma<ref name="radio1">Image courtesy of Dr. Frank Gaillard [http://www.radiopaedia.org Radiopaedia] (original file [http://radiopaedia.org/cases/retinoblastoma-leukocoria]).[http://radiopaedia.org/licence Creative Commons BY-SA-NC</ref>]]
+*Advanced and/or [[metastatic]] form of the [[tumor]] also presents with constitutional [[symptoms]], such as:
+**[[Weight loss]]
+**[[Vomiting]]
+**[[Headache]]
+*[[Patient|Patients]] with retinoblastoma may also present with delay in [[developmental milestones]] and [[intellectual disability]] which may be perceived by their caregivers.<ref name="ClarkAvishay2015">{{cite journal|last1=Clark|first1=Robin D.|last2=Avishay|first2=Stefanie G.|title=Retinoblastoma: Genetic Counseling and Testing|year=2015|pages=77–88|doi=10.1007/978-3-662-43451-2_8}}</ref>
+**[[Intellectual disability]] may be the result of an accompanying [[disease]] or with no clear reason.
+**[[13q deletion syndrome|Chromosome 13q14 deletion]] may cause retinoblastoma and [[intellectual disability]].
+**Retinoblastoma has been also reported in a [[patient]] with [[Fragile-X Syndrome|Fragile x syndrome]].
 ==References==
-<references/>
+{{reflist|2}}
-==See also==
-*[[Eye cancer]]
-*[[Eye examination]]
-{{Nervous tissue tumors}}
-[[Category:Ophthalmology]]
-[[Category:Types of cancer]]
-[[Category:hereditary cancers]]
-[[Category:Oncology stub]]
-{{WikiDoc Help Menu}}
+[[Category:Medicine]]
-{{WikiDoc Sources}}
+[[Category:Oncology]]
+[[Category:Up-To-Date]]
+[[Category:Surgery]]