Retinoblastoma physical examination: Difference between revisions

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{{Retinoblastoma}}
{{Retinoblastoma}}
{{CMG}}{{AE}}{{Simrat}}
{{CMG}}; {{AE}} {{Simrat}} {{Sahar}}
==Overview==
==Overview==
Common physical examination findings of retinoblastoma include [[leukocoria]], [[strabismus]], [[proptosis]], [[anisocoria]], [[orbital cellulitis]], [[hyphema]], [[heterochromia iridis]], poor vision, unilateral [[mydriasis]], [[rubeosis iridis]], vitreous [[hemorrhage]], and findings of a chalky white-gray retinal mass on fundoscopic examination.
[[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]].
==Physical examination==
==Physical Examination==
===General Appearance===
===General Appearance===
*Children with retinoblastoma are generally well-appearing.
*[[Child|Children]] with retinoblastoma are generally well-appearing.
*Children may appear cachectic in advanced cases.
*[[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===
*[[Vital signs]] of [[Patient|patients]] with retinoblastoma are usually within normal limits.
===Skin===
*[[Skin]] [[Physical examination|examination]] of [[Patient|patients]] with retinoblastoma is usually normal.
===HEENT===
===HEENT===
*[[Nystagmus]]
*[[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>
*[[Strabismus]]
*[[Leukocoria]] (white reflex or cat's [[eye]] reflex)
*[[Anisocoria]]  
*[[Strabismus]] or when both [[Eye|eyes]] do not look to the same direction
*[[Proptosis]]
*[[Periorbital edema|Periorbital swelling]]
*Poor vision
*[[Anisocoria]] or inequality of [[pupils]]
*[[Orbital cellulitis]]
*[[Proptosis]]  
*[[Hyphema]]
{|
*[[Heterochromia iridis]]
|[[image:Retinoblastoma leukocoria.jpeg|thumb|400px|leukocoria, Case courtesy of A.Prof Frank Gaillard, Radiopaedia.org, rID: 9462]]
*Unilateral [[mydriasis]]
<br style="clear:left" />
*[[Rubeosis iridis]]
|-
*Red, painful eye with [[glaucoma]]
|}
*[[Vitreous hemorrhage]]
*Decreased [[visual acuity]]
*[[Leukocoria]] (white reflex or cat's eye reflex)
*[[Slit lamp]] [[examination]] may show:
*Low-set ears may be present in 13q deletion syndrome
**[[Orbital cellulitis]]
*Telecanthus may be present in 13q deletion syndrome
**[[Hyphema]]
 
**[[Heterochromia iridis]]
*Ophthalmoscopic exam may be abnormal with findings of chalky white-gray retinal mass
**[[Rubeosis iridis]]
*The [[red reflex]]: checking for a normal reddish-orange reflection from the eye's [[retina]] with an [[ophthalmoscope]] or [[retinoscope]] from approximately 30 cm / 1 foot, usually done in a dimly lit or dark room. Bryan Shaw helped develop a smart-phone app that can detect [[leukocoria]] in photos.
**Red, painful [[eye]] with [[glaucoma]]
 
**[[Vitreous hemorrhage]]
*The corneal light reflex / [[Hirschberg test]]: checking for symmetrical reflection of beam of light in the same spot on each eye when a light is shined into each [[cornea]], to help determine whether the eyes are crossed.
*[[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]]
*Ocular examination  can be easily performed using a surgical or binocular handheld [[slit lamp microscope]], and includes [[anterior segment]] evaluation ([[cornea]], anterior chamber and [[iris]]).<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> Ocular examination is followed by indirect [[ophthalmoscopy]] with indentation under full [[mydriasis]] to examine the entire [[retina]]. In over 90% of cases, direct visualization of the tumor by an indirect ophthalmoscope is diagnostic for retinoblastoma.<ref name="pmid25473349">{{cite journal| author=Pandey AN| title=Retinoblastoma: An overview. | journal=Saudi J Ophthalmol | year= 2014 | volume= 28 | issue= 4 | pages= 310-5 | pmid=25473349 | doi=10.1016/j.sjopt.2013.11.001 | pmc=PMC4250503 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25473349  }} </ref> The diagnosis of retinoblastoma is usually made during a dilated indirect ophthalmoscopic examination, performed under anesthesia. The characteristic finding is a chalky, white-gray retinal mass with a soft, friable consistency.<ref name="pmid2201000">{{cite journal| author=Abramson DH| title=Retinoblastoma 1990: diagnosis, treatment, and implications. | journal=Pediatr Ann | year= 1990 | volume= 19 | issue= 6 | pages= 387-95 | pmid=2201000 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2201000  }} </ref>
**Large [[Tumor|tumors]]: Intrinsic [[calcification]] and a white color with seeding into the [[Retina|subretinal]] and or the [[vitreous]] space
*The fundoscopic examination may show [[retinal detachment]] with retinal vessels visible behind the lens and may show [[vitreous]] and/or subretinal seeding. Intrinsic [[tumor]] calcification, tumor microvasculature, may also be seen. This examination permits complete visualization of the retina, identification of multifocal tumors and/or vitreous or subretinal seeding.
*[[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===
===Extremities===
*Simian crease in the palms and broad thumb may be present in 13q deletion syndrome.
*[[Limb (anatomy)|Extremities]] [[examination]] of [[Patient|patients]] with retinoblastoma is usually normal.
*A thorough systemic examination is important as a pre-requisite for general anaesthesia, as well as to rule out 13q deletion syndrome.
*[[Simian crease]] in the [[Hand|palms]] and a broad [[thumb]] may be present in [[13q deletion syndrome]].


[[File:Retinoblastoma fundoscopy.jpeg|thumb|none|200px|Retinoblastoma fundoscopy<ref name="radio1">Image courtesy of Dr. Frank Gaillard [http://www.radiopaedia.org Radiopaedia] (original file [http://radiopaedia.org/cases/retinoblastoma-fundoscopy]).[http://radiopaedia.org/licence Creative Commons BY-SA-NC</ref>]]
==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. [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.

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