Retinoblastoma physical examination: Difference between revisions

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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]].
==Eyes==
==Physical Examination==
* Age-appropriate visual acuity testing<ref>http://eyewiki.org/Retinoblastoma#Physical_Examination</ref> should be performed monocularly.
===General Appearance===
* External examination should rule out proptosis and signs of orbital cellulitis.
*[[Child|Children]] with retinoblastoma are generally well-appearing.
* Slit lamp examination should look for ciliary injection, pseudohypopyon, or signs of secondary glaucoma.
*[[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>
* The presence or absence of an afferent pupillary defect should be determined.
===Vital Signs===
* If there is any suspicion for retinoblastoma, the patient should undergo an examination under anesthesia. 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.
*[[Vital signs]] of [[Patient|patients]] with retinoblastoma are usually within normal limits.
* Complete retinal examination of both eyes is necessary to rule out bilateral disease.
===Skin===
* '''Fundus examination'''<ref>http://eyewiki.org/Retinoblastoma#Fundus_Examination</ref>
*[[Skin]] [[Physical examination|examination]] of [[Patient|patients]] with retinoblastoma is usually normal.
:* Retinoblastoma classically presents with one or multiple nodular, white or cream colored masses often associated with increased vascularization. There are two primary clinical patterns of retinoblastoma growth.
===HEENT===
::* 1. If the tumor grows forward into the vitreous it is known as an endophytic tumor. This form of retinoblastoma often shows vitreous seeding, which causes vitreous haze and opacities. This can eventually progress to involve the anterior chamber and can cause secondary glaucoma and inflammation.
*[[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>
::* 2. When the tumor shows a growth pattern that extends beneath the retina (subretinal) it is described as an exophytic tumor. These tumors can cause exudative retinal detachments and may be associated with significant subretinal seeding.
*[[Leukocoria]] (white reflex or cat's [[eye]] reflex)
*[[Strabismus]] or when both [[Eye|eyes]] do not look to the same direction
*[[Periorbital edema|Periorbital swelling]]
*[[Anisocoria]] or inequality of [[pupils]]
*[[Proptosis]]
{|
|[[image:Retinoblastoma leukocoria.jpeg|thumb|400px|leukocoria, Case courtesy of A.Prof Frank Gaillard, Radiopaedia.org, rID: 9462]]
<br style="clear:left" />
|-
|}
*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.