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{{CMG}}
__NOTOC__
{{Retinoblastoma}}
{{Retinoblastoma}}
{{CMG}}; {{AE}} {{Simrat}} {{Sahar}}
==Overview==
==Overview==
Common physical examination findings of retinoblastoma include leukocoria, retinal detachment, vitreal opacification and hemorrhage and the diagnosis is challenging.
[[Patient|Patients]] with retinoblastoma usually appear normal. [[Physical examination]] of [[Patient|patients]] is usually remarkable for [[leukocoria]], [[strabismus]], and [[proptosis]], particularly in advanced cases.
 
Other findings on [[physical examination]] of retinoblastoma include [[anisocoria]], [[orbital cellulitis]], [[hyphema]], [[heterochromia iridis]], poor [[visual acuity]], unilateral [[mydriasis]], [[rubeosis iridis]], [[vitreous]] [[hemorrhage]], and findings of intrinsic [[calcification]] on [[Fundoscopy|fundoscopic examination]].
==Indirect Opthalmoscopy==
==Physical Examination==
Leukocoria produced by retinoblastoma lesions can often be missed by direct ophthalmoscopic examination through an undilated pupil. According to a study, Leukocoria was detected by direct ophthalmoscopy on undilated examination in 30% of cases versus 100% in indirect opthalmoscopy after pupillary dilation.<ref name="pmid10506269">{{cite journal |author=Canzano JC, Handa JT |title=Utility of pupillary dilation for detecting leukocoria in patients with retinoblastoma |journal=[[Pediatrics]] |volume=104 |issue=4 |pages=e44 |year=1999 |month=October |pmid=10506269 |doi= |url=http://pediatrics.aappublications.org/cgi/pmidlookup?view=long&pmid=10506269 |accessdate=2012-05-29}}</ref>
===General Appearance===
 
*[[Child|Children]] with retinoblastoma are generally well-appearing.
In children, it is usually done under anesthesia ('''EUA-Examination Under Anesthesia'''). Pupils are dilated to look at the retina through the lens and pupil. The tumor typically appears as creamy pink or snow white mass projecting in to the vitreous. The number, size, location (anterior or posterior), laterality, disc diameter, subretinal fluid or seeds noted and degree of [[exophthalmos]] are measured. Detailed mapping is done with appropriate diagrams and description (relation with [[ora serrata]], [[optic disc]] and [[macula]]).
*[[Child|Children]] may appear [[Cachexia|cachectic]] in advanced cases.<ref name="pmid6703986">{{cite journal |vauthors=MacKay CJ, Abramson DH, Ellsworth RM |title=Metastatic patterns of retinoblastoma |journal=Arch. Ophthalmol. |volume=102 |issue=3 |pages=391–6 |date=March 1984 |pmid=6703986 |doi= |url=}}</ref>
 
===Vital Signs===
However, in certain cases with retinal detachment, vitreal opacification and hemorrhage, the diagnosis is difficult and challenging.
*[[Vital signs]] of [[Patient|patients]] with retinoblastoma are usually within normal limits.
 
===Skin===
Though it is used to confirm the diagnosis, further diagnostic studies like ocular ultrasound and imaging studies are required to classify (stage) the tumor which is very important to choose the appropriate treatment modality.
*[[Skin]] [[Physical examination|examination]] of [[Patient|patients]] with retinoblastoma is usually normal.
 
===HEENT===
Age-appropriate visual acuity testing should be performed monocularly.
*[[Hypertelorism]] in case of concurrent [[13q deletion syndrome]]<ref name="pmid22337189">{{cite journal| author=Mehta M, Sethi S, Pushker N, Kashyap S, Sen S, Bajaj MS et al.| title=Retinoblastoma. | journal=Singapore Med J | year= 2012 | volume= 53 | issue= 2 | pages= 128-35; quiz 136 | pmid=22337189 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22337189  }} </ref>
External examination should rule out proptosis and
*[[Leukocoria]] (white reflex or cat's [[eye]] reflex)
signs of orbital cellulitis.
*[[Strabismus]] or when both [[Eye|eyes]] do not look to the same direction
Slit lamp examination should look for
*[[Periorbital edema|Periorbital swelling]]
ciliary injection,
*[[Anisocoria]] or inequality of [[pupils]]
pseudohypopyon, or
*[[Proptosis]]
signs of secondary glaucoma.
{|
The presence or absence of an afferent pupillary defect should be determined.
|[[image:Retinoblastoma leukocoria.jpeg|thumb|400px|leukocoria, Case courtesy of A.Prof Frank Gaillard, Radiopaedia.org, rID: 9462]]
If there is any suspicion for retinoblastoma, the patient should undergo an examination under anesthesia.
<br style="clear:left" />
An examination under anesthesia with careful scleral depression is necessary to confirm the diagnosis of retinoblastoma as well as to determine the exact location and extent of the tumor(s) and the tumor staging. Photographic documentation for future comparison is recommended.
|-
Complete retinal examination of both eyes is necessary to rule out bilateral disease
|}
*Decreased [[visual acuity]]
*[[Slit lamp]] [[examination]] may show:
**[[Orbital cellulitis]]
**[[Hyphema]]
**[[Heterochromia iridis]]
**[[Rubeosis iridis]]
**Red, painful [[eye]] with [[glaucoma]]
**[[Vitreous hemorrhage]]
*[[Ophthalmoscopy|Funduscopic examination]] may show:
**Small [[Tumor|tumors]]: Round glazed elevations of the [[retina]] with gray-white hew which develop surrounding the serous [[retinal detachments]]
**Large [[Tumor|tumors]]: Intrinsic [[calcification]] and a white color with seeding into the [[Retina|subretinal]] and or the [[vitreous]] space
*[[Patient|Patients]] with [[13q deletion syndrome]] may present with:<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>
**[[Hypertelorism]]
**Flat [[nasal bridge]]
**Small [[mouth]] and [[nose]]
**High arched or [[cleft palate]]
**[[Micrognathia]]
**[[Microcephaly]]
{|
|[[image:Retinoblastoma-fundoscopy-photo.jpeg|thumb|400px|Retinoblastoma [[fundoscopy]], Case courtesy of A.Prof Frank Gaillard, Radiopaedia.org, rID: 9460]]
<br style="clear:left" />
|-
|}
===Neck===
*[[Neck]] [[Physical examination|examination]] of [[Patient|patients]] with retinoblastoma is usually normal.
===Lungs===
*[[Pulmonary examination]] of [[Patient|patients]] with retinoblastoma is usually normal.
===Heart===
*[[Cardiovascular]] [[examination]] of [[Patient|patients]] with retinoblastoma is usually normal.
===Abdomen===
*[[Abdominal examination]] of [[Patient|patients]] with retinoblastoma is usually normal.
===Back===
*[[Human back|Back]] [[examination]] of [[Patient|patients]] with retinoblastoma is usually normal.
===Genitourinary===
*[[Genitourinary system|Genitourinary]] [[examination]] of [[Patient|patients]] with retinoblastoma is usually normal.
===Neuromuscular===
*[[Neuromuscular]] [[examination]] of [[Patient|patients]] with retinoblastoma is usually normal.
===Extremities===
*[[Limb (anatomy)|Extremities]] [[examination]] of [[Patient|patients]] with retinoblastoma is usually normal.
*[[Simian crease]] in the [[Hand|palms]] and a broad [[thumb]] may be present in [[13q deletion syndrome]].


==References==
==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]]


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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. [1]; Associate Editor(s)-in-Chief: Simrat Sarai, M.D. [2] Sahar Memar Montazerin, M.D.[3]

Overview

Patients with retinoblastoma usually appear normal. Physical examination of patients is usually remarkable for leukocoria, strabismus, and proptosis, particularly in advanced cases. Other findings on physical examination of retinoblastoma include anisocoria, orbital cellulitis, hyphema, heterochromia iridis, poor visual acuity, unilateral mydriasis, rubeosis iridis, vitreous hemorrhage, and findings of intrinsic calcification on fundoscopic examination.

Physical Examination

General Appearance

Vital Signs

Skin

HEENT

leukocoria, Case courtesy of A.Prof Frank Gaillard, Radiopaedia.org, rID: 9462


Retinoblastoma fundoscopy, Case courtesy of A.Prof Frank Gaillard, Radiopaedia.org, rID: 9460


Neck

Lungs

Heart

Abdomen

Back

Genitourinary

Neuromuscular

Extremities

References

  1. MacKay CJ, Abramson DH, Ellsworth RM (March 1984). "Metastatic patterns of retinoblastoma". Arch. Ophthalmol. 102 (3): 391–6. PMID 6703986.
  2. Mehta M, Sethi S, Pushker N, Kashyap S, Sen S, Bajaj MS; et al. (2012). "Retinoblastoma". Singapore Med J. 53 (2): 128–35, quiz 136. PMID 22337189.
  3. Clark, Robin D.; Avishay, Stefanie G. (2015). "Retinoblastoma: Genetic Counseling and Testing": 77–88. doi:10.1007/978-3-662-43451-2_8.