Retinoblastoma history and symptoms: Difference between revisions

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{{Retinoblastoma}}
{{Retinoblastoma}}
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{{CMG}}; {{AE}} {{Sahar}} {{Simrat}}
==Overview==
==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.<ref name="pmid14654593">{{cite journal| author=Abramson DH, Beaverson K, Sangani P, Vora RA, Lee TC, Hochberg HM et al.| title=Screening for retinoblastoma: presenting signs as prognosticators of patient and ocular survival. | journal=Pediatrics | year= 2003 | volume= 112 | issue= 6 Pt 1 | pages= 1248-55 | pmid=14654593 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14654593  }} </ref><ref name="pmid3746592">{{cite journal| author=Abramson DH, Ellsworth RM, Grumbach N, Sturgis-Buckhout L, Haik BG| title=Retinoblastoma: correlation between age at diagnosis and survival. | journal=J Pediatr Ophthalmol Strabismus | year= 1986 | volume= 23 | issue= 4 | pages= 174-7 | pmid=3746592 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3746592  }} </ref> 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.<ref name="wiki"> Retinoblastoma. Wikipedia(2015) https://en.wikipedia.org/wiki/Retinoblastoma Accessed on October 10 2015</ref>
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 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>
**[[Perinatal period|Perinatal]] history of:
***[[Pregnancy complications]]
***[[Prematurity|Early birth]]
***[[Low birth weight]]
***Use of [[oxygen]]
**Personal history of:
***Exposure to pets
***Recent [[trauma]]
***[[Systemic]] illness
**[[Family history]] of:
***[[Genetic diseases|Genetic disease]]
***[[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]]


==History==
In taking a medical history, the doctor will ask questions about present illness, [[family history]], risk factors, and signs and symptoms that may suggest retinoblastoma. The physician must specifically inquire about a family history of  [[eye ]] [[tumors]], [[blindness]], childhood malignancies, or [[enucleation]]. A family history of other cancers such as [[sarcomas]] should also be inquired. The parents should be asked if either [[strabismus]] and/or leukocoria have been observed. <ref name="CCS">  Retinoblastoma. Canadian Cancer Society(2015) http://www.cancer.ca/en/cancer-information/cancer-type/retinoblastoma/diagnosis/?region=onAccessed on October 10 2015</ref> Less than 10 percent of retinoblastoma patients have a positive [[family history]] for the disease.<ref name="RichterVandezande2003">{{cite journal|last1=Richter|first1=Suzanne|last2=Vandezande|first2=Kirk|last3=Chen|first3=Ning|last4=Zhang|first4=Katherine|last5=Sutherland|first5=Joanne|last6=Anderson|first6=Julie|last7=Han|first7=Liping|last8=Panton|first8=Rachel|last9=Branco|first9=Patricia|last10=Gallie|first10=Brenda|title=Sensitive and Efficient Detection of RB1 Gene Mutations Enhances Care for Families with Retinoblastoma|journal=The American Journal of Human Genetics|volume=72|issue=2|year=2003|pages=253–269|issn=00029297|doi=10.1086/345651}}</ref>
==Symptoms==
The most common finding 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.<ref name="pmid14654593">{{cite journal| author=Abramson DH, Beaverson K, Sangani P, Vora RA, Lee TC, Hochberg HM et al.| title=Screening for retinoblastoma: presenting signs as prognosticators of patient and ocular survival. | journal=Pediatrics | year= 2003 | volume= 112 | issue= 6 Pt 1 | pages= 1248-55 | pmid=14654593 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14654593  }} </ref><ref name="pmid3746592">{{cite journal| author=Abramson DH, Ellsworth RM, Grumbach N, Sturgis-Buckhout L, Haik BG| title=Retinoblastoma: correlation between age at diagnosis and survival. | journal=J Pediatr Ophthalmol Strabismus | year= 1986 | volume= 23 | issue= 4 | pages= 174-7 | pmid=3746592 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3746592  }} </ref> Some children with retinoblastoma can develop a [[strabismus]], [[nystagmus]], [[red eye]] and squint which is commonly referred to as "cross-eyed" or "wall-eyed" (strabismus). Emergency referral to an [[ophthalmologist]] is warranted when a child presents with [[leukocoria]] or [[strabismus]].<ref name="NIH">  Retinoblastoma. National Cancer Institute(2015) http://www.cancer.gov/types/retinoblastoma/hp/retinoblastoma-treatment-pdq#link/_718_toc Accessed on October 10 2015</ref>
[[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>]]
[[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:
Less common symptoms of retinoblastoma include:<ref name="wiki">  Retinoblastoma. Wikipedia(2015) https://en.wikipedia.org/wiki/Retinoblastoma Accessed on October 10 2015</ref>
**[[Weight loss]]
*Deterioration of vision
**[[Vomiting]]
*[[Proptosis]]
**[[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>
*[[Eye pain]]
**[[Intellectual disability]] may be the result of an accompanying [[disease]] or with no clear reason.
*Squint
**[[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]].
*[[Fever]]
*Symptoms of [[glaucoma]] which include:
**Severe [[headache]]
**[[Nausea]] and [[vomiting]]
**[[Blurred vision]]
**Halos around lights
 
==References==
==References==
{{reflist|2}}
{{reflist|2}}
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Latest revision as of 23:59, 29 July 2020

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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. Common symptoms of retinoblastoma include strabismus and proptosis. The clinical presentation depends on the stage of the disease.

History and Symptoms

History

Symptoms

T2 MRI showing retinoblastoma[6]

References

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