Retinoblastoma differential diagnosis: Difference between revisions

Latest revision as of 23:59, 29 July 2020

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

Overview

Retinoblastoma must be differentiated from other diseases that cause leukocoria. leukocoria may occur in several ocular conditions including tumors, vascular disease, inflammatory disorders, and also due to trauma.

Differentiating Retinoblastoma from Other Diseases

Retinoblastoma must be differentiated from other diseases that cause leukocoria. Differential diagnosis of leukocoria in children include:

Leukocoria

Tumors

Congenital malformations

Vascular diseases

Inflammatory diseases

Trauma

Retinoblastoma
Medulloepithelioma
Leukemia
Combined retinal hamartoma
Astrocytic hamartoma (Bourneville’s tuberous sclerosis)

Persistent fetal vasculature (PFV)
Posterior coloboma
Retinal fold
Myelinated nerve fibers
Morning glory syndrome
Retinal dysplasia
Norrie’s disease
Incontinentia pigmenti
Cataract

Retinopathy of prematurity (ROP)
Coats’ disease
Familial exudative vitreoretinopathy (FEVR)

Ocular toxocariasis
Congenital toxoplasmosis
Congenital cytomegalovirus retinitis
Herpes simplex retinitis
Other types of fetal iridochoroiditis
Endophthalmitis

Intraocular foreign body
Vitreous hemorrhage
Retinal detachment

The above algorithm is adopted from Clinical Ophthalmic Oncology book ^[1]

Retinoblastoma should be differentiated from the following conditions that cause leukocoria:


Disease/Condition	Clinical presentation	Demographics/History	Diagnosis	Other notes

Retinoblastoma^[2]^[3]	Retinal mass Gross examination reveals a whitish tumor with prominent vascularity Vitreous seeding in endophytic tumors exudative retinal detachment in exophytic tumor	Sporadic in 90% of the cases The median age of diagnosis is 18 months Bilateral in 70% of the cases	P/E: leukocoria Ultrasound imaging: A dome or placoid-shaped intraocular mass +/- intralesional calcification CT imaging: Presence of calcification within the tumor	Associated with 13q deletion syndrome
Coats'disease^[4]^[5]	Yellowish appearance of leukocoria P/E: Exudative retinal detachment with vascular tortuosity and telangiectasia +/- neurovascular glaucoma Absence of calcification	Sporadic in 100% of the cases Almost always unilateral More common among boys The median age of diagnosis 5 to 9 years	P/E is diagnostic in most of the cases Ultrasound imaging: Complete retinal detachment Absence of calcification Exudative, mobile lipid material under retina	Fluorescein angiography reveals characteristic telangiectasias of small to medium-sized retinal vessels
Persistent fetal vasculature (formerly known as persistent hyperplastic primary vitreous)^[5]	Presence of leukocoria in infancy which is commonly accompanied by microphthalmia Presence of retrolental fibrovascular tissue +/- secondary cataract	Sporadic in the majority of cases Always congenital (present at birth) Rarely bilateral	P/E: microphthalmia and increasedintraocular pressure Presence of elongated ciliary processes contracting into the retrolental mass Ultrasound imaging: Vitreous band from lens to optic nerve Short axial length of eyes	Bilateral cases has been accompanied byprotein C deficiency
Astrocytic hamartoma^[1]	Presence of gray-yellow or translucent tumors involving the posterior pole near optic nerve	Presents at any age Some has been associated with neurofibromatosis type 1/tuberous sclerosis	P/E: A sessile shape tumor arising from the inner aspect of the sensory retina Presence of small areas of calcification/complete calcification in older patients	Reticular pattern of fine blood vessels on fluorescein angiography
Retinopathy of prematurity (ROP)^[1]	Absence of calcification Presence of retinal contraction in one or both eyes	History of: Prematurity (< 32 weeks gestation) Low birth weight (< 1.5 kg/3.3 lbs) Oxygen supplementation Leukocoria is a late presentation of the disease Always bilateral	P/E: Bilateral retinal avascularity and non-perfusion in temporal peripheral retina with fibrovascular proliferation in advanced cases Ultrasound imaging: Retinal detachment with retinal bands	Short axial length of eyes
Ocular toxocariasis ^[1]	Presence of retinal and/or vitreous traction in approximately all of the cases	Presents at any age Mostly unilateral Ingestion of larvae leads to the infection	P/E: Presence of granuloma and retinal traction Ultrasound imaging: Peripheral mass Vitreoretinal band Traction retinal detachment Presence of eosinophils in the anterior chamber tap	Classified into three sub-types: Macular granuloma Peripheral granuloma Endophthalmitis
Familial Exudative Vitreoretinopathy (FEVR)^[6]	Presents at birth The majority are asymptomatic May present with leukocoria, strabismus, and vision loss	Autosomal dominant pattern of inheritance May occur sporadically Findings include asymmetry of both eyes	P/E: Avascularity of the temporal retina with peripheral fibrovascular proliferation Fluorescein angiography: Peripheral non-perfusion of the fundus	Fundus findings are similar to retinopathy of prematurity except for the history of prematurity
Norrie’s Disease^[1]^[7]	Presents with microcephaly, congenital blindness, deafness, and progressive neuropsychiatric illness	X-linked disorder More common in males	P/E: bilateral retinal dysplasia, sometimes with anterior segment abnormalities and microphthalmia	-
Coloboma^[1]	Presents at birth Failure of the embryonic fissure to close completely results in an absence of normal retina and choroid	The majority are sporadic Congenital disorder that affects male and female equally May be unilateral or bilateral	P/E: Whitish depressed lesion of retina which is typically inferonasal and its margins may encompass the macula or optic nerve	It may be accompanied by CHARGE syndrome

MRI of the orbit showing Coats disease - Case courtesy of Dr Michael Sargent, https://radiopaedia.org/. From the case https://radiopaedia.org/cases/6089	MRI of the orbit showing retinal detachment - Case courtesy of A.Prof Frank Gaillard, https://radiopaedia.org/. From the case https://radiopaedia.org/cases/3134	MRI of the orbit showing retinoblastoma - Case courtesy of https://radiopaedia.org/. From the case https://radiopaedia.org/cases/11877	CT head showing hyperthyroid-induced orbitopathy - Case courtesy of A.Prof Frank Gaillard, https://radiopaedia.org/. From the case https://radiopaedia.org/cases/4854

References

↑ ^1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 Singh, Arun (2015). Clinical ophthalmic oncology : retinoblastoma. Heidelberg: Springer. ISBN 978-3-662-43451-2.
↑ Butros LJ, Abramson DH, Dunkel IJ (March 2002). "Delayed diagnosis of retinoblastoma: analysis of degree, cause, and potential consequences". Pediatrics. 109 (3): E45. PMID 11875173.
↑ Sachdeva R, Schoenfield L, Marcotty A, Singh AD (June 2011). "Retinoblastoma with autoinfarction presenting as orbital cellulitis". J AAPOS. 15 (3): 302–4. doi:10.1016/j.jaapos.2011.02.013. PMID 21680213.
↑ Silva RA, Dubovy SR, Fernandes CE, Hess DJ, Murray TG (December 2011). "Retinoblastoma with Coats' response". Ophthalmic Surg Lasers Imaging. 42 Online: e139–43. doi:10.3928/15428877-20111208-04. PMID 22165951.
↑ ^5.0 ^5.1 Gupta N, Beri S, D'souza P (June 2009). "Cholesterolosis Bulbi of the Anterior Chamber in Coats Disease". J Pediatr Ophthalmol Strabismus. doi:10.3928/01913913-20090616-04. PMID 19645389.
↑ Gerstenblith, Adam (2012). The Wills eye manual : office and emergency room diagnosis and treatment of eye disease. Philadelphia: Wolters Kluwer/Lippincott Williams & Wilkins. ISBN 978-1451109382.
↑ Howard GM, Ellsworth RM (October 1965). "Differential diagnosis of retinoblastoma. A statistical survey of 500 children. I. Relative frequency of the lesions which simulate retinoblastoma". Am. J. Ophthalmol. 60 (4): 610–8. PMID 5897773.

[SinghMurphree2015-1] 1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 Singh, Arun (2015). Clinical ophthalmic oncology : retinoblastoma. Heidelberg: Springer. ISBN 978-3-662-43451-2.

[pmid11875173-2] Butros LJ, Abramson DH, Dunkel IJ (March 2002). "Delayed diagnosis of retinoblastoma: analysis of degree, cause, and potential consequences". Pediatrics. 109 (3): E45. PMID 11875173.

[pmid21680213-3] Sachdeva R, Schoenfield L, Marcotty A, Singh AD (June 2011). "Retinoblastoma with autoinfarction presenting as orbital cellulitis". J AAPOS. 15 (3): 302–4. doi:10.1016/j.jaapos.2011.02.013. PMID 21680213.

[pmid22165951-4] Silva RA, Dubovy SR, Fernandes CE, Hess DJ, Murray TG (December 2011). "Retinoblastoma with Coats' response". Ophthalmic Surg Lasers Imaging. 42 Online: e139–43. doi:10.3928/15428877-20111208-04. PMID 22165951.

[pmid19645389-5] 5.0 ^5.1 Gupta N, Beri S, D'souza P (June 2009). "Cholesterolosis Bulbi of the Anterior Chamber in Coats Disease". J Pediatr Ophthalmol Strabismus. doi:10.3928/01913913-20090616-04. PMID 19645389.

[6] Gerstenblith, Adam (2012). The Wills eye manual : office and emergency room diagnosis and treatment of eye disease. Philadelphia: Wolters Kluwer/Lippincott Williams & Wilkins. ISBN 978-1451109382.

[pmid5897773-7] Howard GM, Ellsworth RM (October 1965). "Differential diagnosis of retinoblastoma. A statistical survey of 500 children. I. Relative frequency of the lesions which simulate retinoblastoma". Am. J. Ophthalmol. 60 (4): 610–8. PMID 5897773.

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[2]

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@@ Line 1: / Line 1: @@
 __NOTOC__
 [[Image:Home_logo1.png|right|250px|link=https://www.wikidoc.org/index.php/Retinoblastoma]]
-{{CMG}}; {{AE}} {{Simrat}} {{Sahar}}
+{{CMG}}; {{AE}} {{Sahar}} {{Simrat}}
 ==Overview==
+Retinoblastoma must be differentiated from other [[diseases]] that cause [[leukocoria]]. [[leukocoria]] may occur in several [[ocular]] [[conditions]] including [[tumors]], [[vascular]] [[disease]], [[inflammatory]] [[disorders]], and also due to [[trauma]].
-==Differential diagnosis==
+==Differentiating Retinoblastoma from Other Diseases==
-Retinoblastoma must be differentiated from other diseases that cause [[leukocoria]]. Differential diagnosis of leukocoria in children include:
+Retinoblastoma must be differentiated from other [[diseases]] that cause [[leukocoria]]. [[Differential diagnosis]] of [[leukocoria]] in [[Child|children]] include:
 {{familytree/start}}
 {{familytree | | | | | | | | | | | | | A01 | | | | | |A01=[[Leukocoria]]}}
@@ Line 13: / Line 13: @@
 {{familytree | D01 | | | | D02 | | | | D03 | | | | D04 | | | | D05 | |D01=[[Tumors]]|D02=[[Congenital malformations]]|D03=[[Vascular]] [[diseases]]|D04=[[Inflammatory]] [[diseases]]|D05=[[Trauma]]}}
 {{familytree | |!| | | | | |!| | | | | |!| | | | | |!| | | | | |!| | }}
-{{familytree | E01 | | | | E02 | | | | E03 | | | | E04 | | | | E05 | |E01=[[Retinoblastoma]]<br>[[Medulloepithelioma]]<br>[[Leukemia]]<br>Combined retinal [[hamartoma]]<br>[[Astrocytic hamartoma]] (Bourneville’s tuberous sclerosis)|E02=[[Persistent fetal vasculature]] (PFV)<br>Posterior [[coloboma]]<br>[[Retinal fold]]<br>Myelinated nerve fibers<br>Morning glory syndrome<br>[[Retinal dysplasia]]<br>[[Norrie’s disease]]<br>Incontinentia pigmenti<br>[[Cataract]]|E03=[[Retinopathy of prematurity]] (ROP)<br>[[Coats’ disease]]<br>Familial exudative vitreoretinopathy (FEVR)|E04=[[Ocular toxocariasis]]<br>[[Congenital toxoplasmosis]]<br>Congenital cytomegalovirus retinitis<br>Herpes simplex retinitis<br>Other types of fetal iridochoroiditis<br>[[Endophthalmitis]]|E05=Intraocular [[foreign body]]<br>[[Vitreous hemorrhage]]<br>[[Retinal detachment]]}}
+{{familytree | E01 | | | | E02 | | | | E03 | | | | E04 | | | | E05 | |E01=[[Retinoblastoma]]<br>[[Medulloepithelioma]]<br>[[Leukemia]]<br>Combined retinal [[hamartoma]]<br>Astrocytic [[hamartoma]] (Bourneville’s tuberous sclerosis)|E02=[[Persistent fetal vasculature]] (PFV)<br>Posterior [[coloboma]]<br>[[Retinal fold]]<br>Myelinated nerve fibers<br>Morning glory syndrome<br>[[Retinal dysplasia]]<br>[[Norrie’s disease]]<br>Incontinentia pigmenti<br>[[Cataract]]|E03=[[Retinopathy of prematurity]] (ROP)<br>[[Coats’ disease]]<br>Familial exudative vitreoretinopathy (FEVR)|E04=[[Ocular toxocariasis]]<br>[[Congenital toxoplasmosis]]<br>Congenital [[cytomegalovirus]] [[retinitis]]<br>[[Herpes simplex]] [[retinitis]]<br>Other types of fetal iridochoroiditis<br>[[Endophthalmitis]]|E05=Intraocular [[foreign body]]<br>[[Vitreous hemorrhage]]<br>[[Retinal detachment]]}}
 {|
-! colspan="2" style="background:#DCDCDC;" align="center" + |The above table adopted from Clinical Ophthalmic Oncology book <ref name="SinghMurphree2015">{{cite book | last = Singh | first = Arun | title = Clinical ophthalmic oncology : retinoblastoma | publisher = Springer | location = Heidelberg | year = 2015 | isbn = 978-3-662-43451-2 }}</ref>
+! colspan="2" style="background:#DCDCDC;" align="center" + |The above algorithm is adopted from Clinical Ophthalmic Oncology book <ref name="SinghMurphree2015">{{cite book | last = Singh | first = Arun | title = Clinical ophthalmic oncology : retinoblastoma | publisher = Springer | location = Heidelberg | year = 2015 | isbn = 978-3-662-43451-2 }}</ref>
 |-
 |}
-Differential diagnosis of leukocoria
+Retinoblastoma should be differentiated from the following conditions that cause [[leukocoria]]:
 {| style="border: 0px; font-size: 90%; margin: 3px; width: 800px;" align="center"
 | valign="top" |
@@ Line 31: / Line 31: @@
 | style="padding: 5px 5px; background: #F5F5F5;" |
 *[[Retinal]] [[mass]]
-*[[Physical exam]](P/E) reveals a whitish [[tumor]] with prominent [[Vascular|vascularity]]
+*[[Gross examination]] reveals a whitish [[tumor]] with prominent [[Vascular|vascularity]]
 *[[Vitreous]] seeding in endophytic [[tumors]]
 *[[exudative]] [[retinal detachment]] in exophytic [[tumor]]
 | style="padding: 5px 5px; background: #F5F5F5;" |
 *Sporadic in 90% of the cases
-*The median age of [[diagnosis]] is 18 months
+*The [[median]] age of [[diagnosis]] is 18 months
 *[[Bilateral]] in 70% of the cases
 | style="padding: 5px 5px; background: #F5F5F5;" |
-*P/E:[[leukocoria]]
+*[[Physical examination|P/E]]: [[leukocoria]]
-*[[Ultrasound imaging|US imaging]]:
+*[[Ultrasound imaging|Ultrasound imaging]]:
-**a dome or placoid-shaped intraocular [[mass]]
+**A dome or placoid-shaped [[Ocular|intraocular]] mass
-**+/-intralesional [[calcification]]
+**+/- [[Lesion|intralesional]] [[calcification]]
-*[[CT scan|CT imaging]]: presence of [[calcification]] within the [[tumor]]
+*[[CT scan|CT imaging]]: Presence of [[calcification]] within the [[tumor]]
 | style="padding: 5px 5px; background: #F5F5F5;" |
 *Associated with [[13q deletion syndrome]]
 |-
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Coats'disease<ref name="pmid22165951">{{cite journal |vauthors=Silva RA, Dubovy SR, Fernandes CE, Hess DJ, Murray TG |title=Retinoblastoma with Coats' response |journal=Ophthalmic Surg Lasers Imaging |volume=42 Online |issue= |pages=e139–43 |date=December 2011 |pmid=22165951 |doi=10.3928/15428877-20111208-04 |url=}}</ref><ref name="pmid19645389">{{cite journal |vauthors=Gupta N, Beri S, D'souza P |title=Cholesterolosis Bulbi of the Anterior Chamber in Coats Disease |journal=J Pediatr Ophthalmol Strabismus |volume= |issue= |pages= |date=June 2009 |pmid=19645389 |doi=10.3928/01913913-20090616-04 |url=}}</ref>
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |[[Coats disease|Coats'disease]]<ref name="pmid22165951">{{cite journal |vauthors=Silva RA, Dubovy SR, Fernandes CE, Hess DJ, Murray TG |title=Retinoblastoma with Coats' response |journal=Ophthalmic Surg Lasers Imaging |volume=42 Online |issue= |pages=e139–43 |date=December 2011 |pmid=22165951 |doi=10.3928/15428877-20111208-04 |url=}}</ref><ref name="pmid19645389">{{cite journal |vauthors=Gupta N, Beri S, D'souza P |title=Cholesterolosis Bulbi of the Anterior Chamber in Coats Disease |journal=J Pediatr Ophthalmol Strabismus |volume= |issue= |pages= |date=June 2009 |pmid=19645389 |doi=10.3928/01913913-20090616-04 |url=}}</ref>
 | style="padding: 5px 5px; background: #F5F5F5;" |
 * Yellowish appearance of [[leukocoria]]
-*P/E:exudative retinal detachment with vascular tortuosity and telangiectasia
+*[[Physical examination|P/E]]: [[Exudate|Exudative]] [[retinal detachment]] with [[vascular]] tortuosity and [[telangiectasia]]
-*+/- neurovascular glaucoma
+*+/- neurovascular [[glaucoma]]
-*Absence of calcification
+*Absence of [[calcification]]
 | style="padding: 5px 5px; background: #F5F5F5;" |
 *Sporadic in 100% of the cases
 *Almost always unilateral
 *More common among boys
-*The median age of diagnosis 5 to 9 years
+*The [[median]] age of [[diagnosis]] 5 to 9 years
 | style="padding: 5px 5px; background: #F5F5F5;" |
-*P/E is diagnostic in most of the cases
+*[[Physical Examination|P/E]] is [[Diagnosis|diagnostic]] in most of the cases
-*Ultrasound examination:
+*[[Ultrasound imaging]]:
-**Complete retinal detachment
+**Complete [[retinal detachment]]
-**Absence of calcification
+**Absence of [[calcification]]
-**Exudative, mobile lipid material under retina
+**[[Exudate|Exudative]], mobile [[lipid]] material under [[retina]]
 | style="padding: 5px 5px; background: #F5F5F5;" |
-*Fluorescein angiographyr reveals characteristic telangiectasias of small to medium-sized retinal vessels
+*[[Fluorescein angiography]] reveals characteristic [[telangiectasias]] of small to medium-sized [[retinal]] [[Blood vessel|vessels]]
 |-
 | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Persistent fetal vasculature (formerly known as persistent hyperplastic primary vitreous)<ref name="pmid19645389">{{cite journal |vauthors=Gupta N, Beri S, D'souza P |title=Cholesterolosis Bulbi of the Anterior Chamber in Coats Disease |journal=J Pediatr Ophthalmol Strabismus |volume= |issue= |pages= |date=June 2009 |pmid=19645389 |doi=10.3928/01913913-20090616-04 |url=}}</ref>
 | style="padding: 5px 5px; background: #F5F5F5;" |
-*Presence of leukocoria in infancy which commonly accompanied with microphthalmia
+*Presence of [[leukocoria]] in [[infancy]] which is commonly accompanied by [[microphthalmia]]
-*presence of retrolental fibrovascular
+*Presence of retrolental fibrovascular [[Tissue (biology)|tissue]]
-*+/- secondary cataract
+*+/- secondary [[cataract]]
 | style="padding: 5px 5px; background: #F5F5F5;" |
 *Sporadic in the majority of cases
-*Always congenital (present at birth)
+*Always [[congenital]] (present at birth)
-*Rarely bilateral
+*Rarely [[bilateral]]
 | style="padding: 5px 5px; background: #F5F5F5;" |
-*P/E:microphthalmia and intraocular pressure
+*[[Physical examination|P/E]]: [[microphthalmia]] and increased[[intraocular pressure]]
-*presence of elongated ciliary processes contracting into the retrolental mass
+*Presence of elongated [[ciliary processes]] contracting into the retrolental mass
-*Ultrasound imaging:
+*[[Ultrasound imaging]]:
-**Vitreous band from lens to optic nerve
+**[[Vitreous]] band from [[Lens (anatomy)|lens]] to [[optic nerve]]
-**Short axial length of eyes
+**Short axial length of [[Eye|eyes]]
 | style="padding: 5px 5px; background: #F5F5F5;" |
-*Bilateral cases has been accompanied with protein C deficiency
+*[[Bilateral]] cases has been accompanied by[[protein C deficiency]]
 |-
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Astrocytic hamartoma<ref name="SinghMurphree2015">{{cite book | last = Singh | first = Arun | title = Clinical ophthalmic oncology : retinoblastoma | publisher = Springer | location = Heidelberg | year = 2015 | isbn = 978-3-662-43451-2 }}</ref>
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Astrocytic [[hamartoma]]<ref name="SinghMurphree2015">{{cite book | last = Singh | first = Arun | title = Clinical ophthalmic oncology : retinoblastoma | publisher = Springer | location = Heidelberg | year = 2015 | isbn = 978-3-662-43451-2 }}</ref>
 | style="padding: 5px 5px; background: #F5F5F5;" |
-*Presence of gray-yellow or translucent tumors involving the posterior pole near optic nerve
+*Presence of gray-yellow or translucent [[tumors]] involving the [[Anatomical terms of location|posterior]] pole near [[optic nerve]]
 | style="padding: 5px 5px; background: #F5F5F5;" |
 *Presents at any age
-*Some has been associated with neurofibromatosis type 1/tuberous sclerosis
+*Some has been associated with [[neurofibromatosis type 1]]/[[tuberous sclerosis]]
 | style="padding: 5px 5px; background: #F5F5F5;" |
-*P/E:a sessile shape tumor and arising from the inner aspect of the sensory retina
+*[[Physical Examination|P/E]]: A sessile shape [[tumor]] arising from the inner aspect of the [[Sensory system|sensory]] [[retina]]
-*Presence of small areas of calcification/complete calcification in older patients
+*Presence of small areas of [[calcification]]/complete [[calcification]] in older [[Patient|patients]]
 | style="padding: 5px 5px; background: #F5F5F5;" |
-*Reticular pattern of fine blood vessels in fluorescein angiography
+*Reticular pattern of fine [[Blood vessel|blood vessels]] on [[fluorescein angiography]]
 |-
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Retinopathy of prematurity (ROP)<ref name="SinghMurphree2015">{{cite book | last = Singh | first = Arun | title = Clinical ophthalmic oncology : retinoblastoma | publisher = Springer | location = Heidelberg | year = 2015 | isbn = 978-3-662-43451-2 }}</ref>
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | [[Retinopathy of prematurity|Retinopathy of prematurity (ROP)]]<ref name="SinghMurphree2015">{{cite book | last = Singh | first = Arun | title = Clinical ophthalmic oncology : retinoblastoma | publisher = Springer | location = Heidelberg | year = 2015 | isbn = 978-3-662-43451-2 }}</ref>
 | style="padding: 5px 5px; background: #F5F5F5;" |
-*Absence of calcification
+*Absence of [[calcification]]
-*Presence of retinal contraction in one or both eyes
+*Presence of [[retinal]] contraction in one or both [[Eye|eyes]]
 | style="padding: 5px 5px; background: #F5F5F5;" |
 *History of:
-**Prematurity (<32 weeks gestation)
+**[[Prematurity]] (< 32 weeks [[gestation]])
-**Low birth weight (<1.5 kg)
+**[[Low birth weight]] (< 1.5 kg/3.3 lbs)
-**Oxygen supplementation
+**[[Oxygen]] supplementation
-*Leukocoria is the late presentation of the disease
+*[[Leukocoria]] is a late presentation of the [[disease]]
-*Always bilateral
+*Always [[bilateral]]
 | style="padding: 5px 5px; background: #F5F5F5;" |
-*P/E:Bilateral retinal avascularity and nonperfusion in temporal peripheral retina with fibrovascular proliferation in advanced cases
+*[[Physical Examination|P/E]]: [[Bilateral]] [[retinal]] [[Vascularity|avascularity]] and non-[[perfusion]] in [[temporal]] peripheral [[retina]] with fibrovascular proliferation in advanced cases
-*Ultrasound imaging:
+*[[Ultrasound imaging|Ultrasound imaging:]]
-**Retinal detachment with retinal bands
+**[[Retinal detachment]] with [[retinal]] bands
 | style="padding: 5px 5px; background: #F5F5F5;" |
-*Short axial length of eyes
+*Short axial length of [[Eye|eyes]]
 |-
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Ocular toxocariasis <ref name="SinghMurphree2015">{{cite book | last = Singh | first = Arun | title = Clinical ophthalmic oncology : retinoblastoma | publisher = Springer | location = Heidelberg | year = 2015 | isbn = 978-3-662-43451-2 }}</ref>
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | [[Toxocariasis|Ocular toxocariasis]] <ref name="SinghMurphree2015">{{cite book | last = Singh | first = Arun | title = Clinical ophthalmic oncology : retinoblastoma | publisher = Springer | location = Heidelberg | year = 2015 | isbn = 978-3-662-43451-2 }}</ref>
 | style="padding: 5px 5px; background: #F5F5F5;" |
-*Presence of retinal and/or vitreous traction in approximately all the cases
+*Presence of [[retinal]] and/or [[vitreous]] traction in approximately all of the cases
 | style="padding: 5px 5px; background: #F5F5F5;" |
 *Presents at any age
 *Mostly unilateral
-*Ingestion of larvae leads to the infection
+*[[Ingestion]] of larvae leads to the [[infection]]
 | style="padding: 5px 5px; background: #F5F5F5;" |
-*P/E:presence of granuloma and retinal traction
+*[[Physical Examination|P/E]]: Presence of [[granuloma]] and [[retinal]] traction
-*Ultrasound imaging:
+*[[Ultrasound imaging]]:
-**Peripheral mass
+**Peripheral [[mass]]
 **Vitreoretinal band
-**Traction retinal detachment
+**Traction [[retinal detachment]]
-*Presence of eosinophils in the anterior chamber tap
+*Presence of [[eosinophils]] in the [[anterior chamber]] tap
 | style="padding: 5px 5px; background: #F5F5F5;" |
-*Classified into three subtypes:
+*[[Classification|Classified]] into three sub-types:
-**Macular granuloma
+**[[Macular]] [[granuloma]]
-**Peripheral granuloma
+**Peripheral [[granuloma]]
-**Endophthalmitis
+**[[Endophthalmitis]]
 |-
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Hereditary retinal syndrome
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Familial Exudative Vitreoretinopathy (FEVR)<ref>{{cite book | last = Gerstenblith | first = Adam | title = The Wills eye manual : office and emergency room diagnosis and treatment of eye disease | publisher = Wolters Kluwer/Lippincott Williams & Wilkins | location = Philadelphia | year = 2012 | isbn = 978-1451109382 }}</ref>
 | style="padding: 5px 5px; background: #F5F5F5;" |
-*Generally causes vitreoretinal traction and ocular inflammation not seen in retinoblastoma
+*Presents at birth
-| style="padding: 5px 5px; background: #F5F5F5;" |
+*The majority are [[asymptomatic]]
-*Fundus examination reveals the characteristic signs
+*May present with [[leukocoria]], [[strabismus]], and [[vision loss]]
-| style="padding: 5px 5px; background: #F5F5F5;" |
-*
-|}
-Differentiating features of some common and less common differential diagnosis are:
-{| style="border: 0px; font-size: 90%; margin: 3px; width: 800px;" align="center"
-| valign="top" |
-|+
-! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Disease/Condition}}
-! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Age of presentation }}
-! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Risk factors }}
-! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Unilateral/bilateral }}
-! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Differentiating Signs/Symptoms }}
-! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Axial length }}
-! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Imaging findings }}
-|-
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Retinoblastoma
 | style="padding: 5px 5px; background: #F5F5F5;" |
-*< 3 years of age in 90%
+*[[Autosomal dominant]] pattern of [[Heredity|inheritance]]
+*May occur sporadically
+*Findings include asymmetry of both [[Eye|eyes]]
 | style="padding: 5px 5px; background: #F5F5F5;" |
-*Family history
+*[[Physical examination|P/E]]: [[Vascularity|Avascularity]] of the [[temporal]] [[retina]] with peripheral fibrovascular proliferation
+*[[Fluorescein angiography]]: Peripheral non-[[perfusion]] of the [[fundus]]
 | style="padding: 5px 5px; background: #F5F5F5;" |
-*Unilateral/bilateral
+*[[Fundus]] findings are similar to [[retinopathy of prematurity]] except for the history of [[prematurity]]
-| style="padding: 5px 5px; background: #F5F5F5;" |
-*Leukocoria
-| style="padding: 5px 5px; background: #F5F5F5;" |
-*Normal
-| style="padding: 5px 5px; background: #F5F5F5;" |
-*USG:Intraretinal/subretinal mass with calcification
 |-
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Congenital Cataract
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | [[Norrie disease|Norrie’s Disease]]<ref name="SinghMurphree2015">{{cite book | last = Singh | first = Arun | title = Clinical ophthalmic oncology : retinoblastoma | publisher = Springer | location = Heidelberg | year = 2015 | isbn = 978-3-662-43451-2 }}</ref><ref name="pmid5897773">{{cite journal |vauthors=Howard GM, Ellsworth RM |title=Differential diagnosis of retinoblastoma. A statistical survey of 500 children. I. Relative frequency of the lesions which simulate retinoblastoma |journal=Am. J. Ophthalmol. |volume=60 |issue=4 |pages=610–8 |date=October 1965 |pmid=5897773 |doi= |url=}}</ref>
 | style="padding: 5px 5px; background: #F5F5F5;" |
-*Presents at birth
+*Presents with [[microcephaly]], congenital [[blindness]], [[deafness]], and progressive [[neuropsychiatric]] illness
-*Lens opacification rare in retinoblastoma
 | style="padding: 5px 5px; background: #F5F5F5;" |
-*Fundus examination reveals lens opacification
+*[[X-linked|X-linked disorder]]
-*Ultrasound shows increased echogenicity of lens
+*More common in [[Male|males]]
-|-
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Coats disease (exudative retinitis or retinal telangiectasis)
 | style="padding: 5px 5px; background: #F5F5F5;" |
-*Most cases are unilateral
+*[[Physical exam|P/E]]: [[bilateral]] [[retinal]] [[dysplasia]], sometimes with [[Anatomical terms of location|anterior]] segment abnormalities and [[microphthalmia]]
-*Mean age at presentation is 6 years
-*More common in males
 | style="padding: 5px 5px; background: #F5F5F5;" |
-*Fundus examination: lesion appears more yellow-colored (versus chalky white-gray in retinoblastoma); telangiectatic and aneurysmal retinal vessels are characteristic of Coats disease but uncommon in retinoblastoma
+-
-*Spectral domain optical coherence tomography may be helpful in distinguishing Coats disease from retinoblastoma
-*Ophthalmic ultrasound: can be misleading because calcification can also be seen in Coats disease
 |-
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Persistent fetal vasculature (formerly known as persistent hyperplastic primary vitreous)
+| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | [[Coloboma]]<ref name="SinghMurphree2015">{{cite book | last = Singh | first = Arun | title = Clinical ophthalmic oncology : retinoblastoma | publisher = Springer | location = Heidelberg | year = 2015 | isbn = 978-3-662-43451-2 }}</ref>
-| style="padding: 5px 5px; background: #F5F5F5;" |
-*Associated with a micro-ophthalmic eye (a small, malformed eye)
-*Often associated with a cataract (rare in retinoblastoma)
-*Congenital (retinoblastoma uncommonly presents at birth)
-*Dragging of the ciliary processes on exam
 | style="padding: 5px 5px; background: #F5F5F5;" |
-*Measurement of axial length using fundus examination and ultrasound shows short axial length in persistent fetal vasculature
+*Presents at [[birth]]
-|-
+*Failure of the [[embryonic]] fissure to close completely results in an absence of normal [[retina]] and [[choroid]]
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Retinopathy of prematurity (ROP)
 | style="padding: 5px 5px; background: #F5F5F5;" |
-*Generally occurs in premature children given high-dose oxygen
+*The majority are sporadic
-*Can result in total retinal detachment
+*[[Congenital disorder]] that affects [[male]] and [[female]] equally
+*May be unilateral or [[bilateral]]
 | style="padding: 5px 5px; background: #F5F5F5;" |
-*Fundus examination: reveals gliotic-appearing retina, which is different from the retinal detachment associated with retinoblastoma
+*[[Physical exam|P/E]]: Whitish depressed [[lesion]] of [[retina]] which is typically inferonasal and its margins may encompass the [[macula]] or [[optic nerve]]
-|-
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Ocular toxocariasis
 | style="padding: 5px 5px; background: #F5F5F5;" |
-*Generally causes vitreoretinal traction and ocular inflammation not seen in retinoblastoma
+*It may be accompanied by [[CHARGE syndrome]]
-| style="padding: 5px 5px; background: #F5F5F5;" |
-*Fundus examination reveals the characteristic signs
 |}
 {| class="wikitable"
-|+Differentiating ocular cysticercosis from other ocular lesions
+![[Image:Coats-disease-of-the-eye.jpg|center|300px|thumb|[[Magnetic resonance imaging|MRI]] of the [[Orbit (anatomy)|orbit]] showing [[Coats disease]] - Case courtesy of Dr Michael Sargent, https://radiopaedia.org/. From the case https://radiopaedia.org/cases/6089]]
-!Disease
-!Prominent clinical feature
-!Radiological findings
-|-
-|Ocular cysticercosis
-|
-* Diagnosis made usually between 8-16 years (rarely in adulthood)
-* Wide range of symptoms from being [[asymptomatic]] to [[Decreased visual acuity|decreased vision]] and [[strabismus]].
-* [[Decreased visual acuity]] at initial presentation has a poor prognosis. <ref name="urlHow to Diagnose and Manage Coats’ Disease">{{cite web |url=https://www.reviewofophthalmology.com/article/how-to-diagnose-and-manage-coatsand8217-disease-42782 |title=How to Diagnose and Manage Coats’ Disease |format= |work= |accessdate=}}</ref>
-|
-* [[Fundus (eye)|Fundus examination]] reveals vascular lesions and [[Exudate|exudates]].
-* [[Fluorescein angiography]] is the best method to visualize the lesions.
-* [[CT]] and [[MRI]] are reserved for atypical cases.<ref name="urlHow to Diagnose and Manage Coats’ Disease">{{cite web |url=https://www.reviewofophthalmology.com/article/how-to-diagnose-and-manage-coatsand8217-disease-42782 |title=How to Diagnose and Manage Coats’ Disease |format= |work= |accessdate=}}</ref>
-|-
-|[[Retinal detachment]]
-|
-* Most common presenting symptoms are [[photophobia]] and [[floaters]]
-* [[Visual field defect|Visual field defects]] (described as curtain falling from periphery to the center)<ref name="urlManagement of retinal detachment: a guide for non-ophthalmologists">{{cite web |url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2405853/ |title=Management of retinal detachment: a guide for non-ophthalmologists |format= |work= |accessdate=}}</ref>
-|
-* [[Ophthalmoscope]] is not reliable in detecting retinal detachment as there might be associated [[hemorrhage]]
-* [[Ultrasound]] can be used to identify and localize the detachment.<ref name="urlManagement of retinal detachment: a guide for non-ophthalmologists">{{cite web |url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2405853/ |title=Management of retinal detachment: a guide for non-ophthalmologists |format= |work= |accessdate=}}</ref>
-|-
-|Hyperthyroid Ophthalmopathy
-|
-* The hallmark is [[Exophthalmos|Eye protrusion]], [[photophobia]], [[lacrimation]] and later in the disease, diminished eye motility.<ref name="urlThyroid Ophthalmopathy - EyeWiki">{{cite web |url=http://eyewiki.aao.org/Thyroid_Ophthalmopathy |title=Thyroid Ophthalmopathy - EyeWiki |format= |work= |accessdate=}}</ref>
-|
-* [[Ultrasonography]]: inflamed thickened [[extraocular muscles]].
-* [[CT]]: shows [[inflamed]] muscle and free tendon from [[inflammation]]
-* [[MRI]]: shows periorbital fat expansion, increased water content of the muscles as a result of the [[inflammation]].<ref name="urlThyroid Ophthalmopathy - EyeWiki">{{cite web |url=http://eyewiki.aao.org/Thyroid_Ophthalmopathy |title=Thyroid Ophthalmopathy - EyeWiki |format= |work= |accessdate=}}</ref>
-|-
-|[[Retinoblastoma]]
-|
-* The most prominent sign is [[leukocoria]], followed by [[strabismus]]
-* The patient also may present with [[buphthalmos]], [[Cloudy cornea (patient information)|corneal clouding]] and eye tearing.<ref name="urlc.ymcdn.com">{{cite web |url=https://c.ymcdn.com/sites/www.covd.org/resource/resmgr/VDR_1-1/VDR1-1_article_Kollodge_Web.pdf+ |title=c.ymcdn.com |format= |work= |accessdate=}}</ref>
-|
-* [[Ultrasound]]: can detect the [[tumor]] as a result of the [[Calcification|calcifications]] inside.
-* [[MRI|MRI:]] assess [[Sella turcica|sellar]] and [[Parasellar and suprasellar disorders|parasellar]] regions .. it can also detect extraocular spread of the [[tumor]].<ref name="urlc.ymcdn.com">{{cite web |url=https://c.ymcdn.com/sites/www.covd.org/resource/resmgr/VDR_1-1/VDR1-1_article_Kollodge_Web.pdf+ |title=c.ymcdn.com |format= |work= |accessdate=}}</ref>
-|}
-{| class="wikitable"
-![[Image:Coats-disease-of-the-eye.jpg|center|300px|thumb|MRI of the orbit showing Coats disease - Case courtesy of Dr Michael Sargent, https://radiopaedia.org/. From the case https://radiopaedia.org/cases/6089]]
 ![[Image:Retinal-detachment-1.jpg|center|300px|thumb|MRI of the orbit showing retinal detachment - Case courtesy of A.Prof Frank Gaillard, https://radiopaedia.org/. From the case https://radiopaedia.org/cases/3134]]
@@ Line 264: / Line 188: @@
 ==References==
 {{reflist|2}}
+[[Category:Medicine]]
+[[Category:Oncology]]
+[[Category:Up-To-Date]]
+[[Category:Surgery]]

Retinoblastoma differential diagnosis: Difference between revisions

Latest revision as of 23:59, 29 July 2020

Overview

Differentiating Retinoblastoma from Other Diseases

References

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