Retinoblastoma differential diagnosis: Difference between revisions
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{{CMG}}: {{AE}} {{Simrat}} | {{CMG}}: {{AE}} {{Simrat}} | ||
==Overview== | ==Overview== | ||
Retinoblastoma must be differentiated from other diseases that cause [[leukocoria]] such as [[congenital]] [[cataract]], persistent fetal vasculature, [[Coats disease]], [[coloboma]] of [[choroid]] or [[optic disc]], [[toxocariasis]], [[astrocytic]] [[hamartoma]], [[retinopathy of prematurity]], [[vitreous hemorrhage]], [[uveitis]], [[retinal dysplasia]], and [[medulloepithelioma]].<ref name="wiki"> | Retinoblastoma must be differentiated from other diseases that cause [[leukocoria]] such as [[congenital]] [[cataract]], persistent fetal vasculature, [[Coats disease]], [[coloboma]] of [[choroid]] or [[optic disc]], [[toxocariasis]], [[astrocytic]] [[hamartoma]], [[retinopathy of prematurity]], [[vitreous hemorrhage]], [[uveitis]], [[retinal dysplasia]], and [[medulloepithelioma]].<ref name="wiki">Retinoblastoma. Wikipedia(2015) https://en.wikipedia.org/wiki/Retinoblastoma#cite_note-30 Accessed on October 2, 2015</ref> | ||
==Differential diagnosis== | ==Differential diagnosis== | ||
Retinoblastoma must be differentiated from other diseases that cause [[leukocoria]]. The common causes of leukocoria in children include:<ref name="wiki"> | Retinoblastoma must be differentiated from other diseases that cause [[leukocoria]]. The common causes of leukocoria in children include:<ref name="wiki">Retinoblastoma. Wikipedia(2015) https://en.wikipedia.org/wiki/Retinoblastoma#cite_note-30 Accessed on October 2, 2015</ref> | ||
*[[Congenital]] [[cataract]] | *[[Congenital]] [[cataract]] | ||
*Persistent fetal vasculature | *Persistent fetal vasculature | ||
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*[[Coloboma]] of [[choroid]] or [[optic disc]] | *[[Coloboma]] of [[choroid]] or [[optic disc]] | ||
*[[Toxocariasis]] | *[[Toxocariasis]] | ||
*[[Astrocytic ]][[hamartoma]] | *[[Astrocytic ]] [[hamartoma]] | ||
*[[Retinopathy of prematurity]] (stage 4, 5) | *[[Retinopathy of prematurity]] (stage 4, 5) | ||
*[[Vitreous hemorrhage]] | *[[Vitreous hemorrhage]] | ||
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*[[Medulloepithelioma]] | *[[Medulloepithelioma]] | ||
Differential diagnosis of leukocoria | Differential diagnosis of leukocoria | ||
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! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Disease/Condition}} | ! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Disease/Condition}} | ||
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*[[Retinal]] [[mass]] | *[[Retinal]] [[mass]] | ||
*Physical exam reveals a whitish tumor with prominent vascularity | *[[Physical exam]] reveals a whitish [[tumor]] with prominent [[Vascular|vascularity]] | ||
* | *[[Vitreous]] seeding in endophytic [[tumors]] | ||
*exudative retinal detachment in exophytic tumor | *[[exudative]] [[retinal detachment]] in exophytic [[tumor]] | ||
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*Sporadic in 90% of the cases | *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 | *[[Bilateral]] in 70% of the cases | ||
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*Presence of leukocoria | *Presence of [[leukocoria]] | ||
*US imaging: | *[[Ultrasound imaging|US imaging]]: | ||
**a dome or placoid-shaped intraocular mass | **a dome or placoid-shaped intraocular [[mass]] | ||
**+/-intralesional | **+/-intralesional [[calcification]] | ||
*CT imaging: presence of calcification within the tumor | *[[CT scan|CT imaging]]: presence of [[calcification]] within the [[tumor]] | ||
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*Associated with 13q deletion syndrome | *Associated with [[13q deletion syndrome]] | ||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Coats'disease (exudative retinitis or retinal telangiectasis) | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Coats'disease (exudative retinitis or retinal telangiectasis) | ||
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Differentiating features of some common and less common differential diagnosis are: | Differentiating features of some common and less common differential diagnosis are: | ||
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! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Disease/Condition}} | ! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Disease/Condition}} |
Revision as of 17:15, 7 May 2019
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]: Associate Editor(s)-in-Chief: Simrat Sarai, M.D. [2]
Overview
Retinoblastoma must be differentiated from other diseases that cause leukocoria such as congenital cataract, persistent fetal vasculature, Coats disease, coloboma of choroid or optic disc, toxocariasis, astrocytic hamartoma, retinopathy of prematurity, vitreous hemorrhage, uveitis, retinal dysplasia, and medulloepithelioma.[1]
Differential diagnosis
Retinoblastoma must be differentiated from other diseases that cause leukocoria. The common causes of leukocoria in children include:[1]
- Congenital cataract
- Persistent fetal vasculature
- Coats disease
Less common causes of leukocoria include:
- Coloboma of choroid or optic disc
- Toxocariasis
- Astrocytic hamartoma
- Retinopathy of prematurity (stage 4, 5)
- Vitreous hemorrhage
- Uveitis
- Retinal dysplasia
- Medulloepithelioma
Differential diagnosis of leukocoria
Disease/Condition | Clinical presentation | Demographics/History | Diagnosis | Other notes |
---|---|---|---|---|
Retinoblastoma[2][3] |
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| |
Coats'disease (exudative retinitis or retinal telangiectasis) |
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| |
PHPV/Persistent fetal vasculature (formerly known as persistent hyperplastic primary vitreous) |
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| |
Astrocytic hamartoma |
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| |
Retinopathy of prematurity (ROP) |
|
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| |
Ocular toxocariasis |
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Hereditary retinal syndrome |
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|
Differentiating features of some common and less common differential diagnosis are:
Disease/Condition | Age of presentation | Risk factors | Unilateral/bilateral | Differentiating Signs/Symptoms | Axial length | Imaging findings |
---|---|---|---|---|---|---|
Retinoblastoma |
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Congenital Cataract |
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Coats disease (exudative retinitis or retinal telangiectasis) |
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Persistent fetal vasculature (formerly known as persistent hyperplastic primary vitreous) |
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Retinopathy of prematurity (ROP) |
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Ocular toxocariasis |
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Disease | Prominent clinical feature | Radiological findings |
---|---|---|
Ocular cysticercosis |
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Retinal detachment |
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Hyperthyroid Ophthalmopathy |
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Retinoblastoma |
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|
References
- ↑ 1.0 1.1 Retinoblastoma. Wikipedia(2015) https://en.wikipedia.org/wiki/Retinoblastoma#cite_note-30 Accessed on October 2, 2015
- ↑ 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.
- ↑ 4.0 4.1 "How to Diagnose and Manage Coats' Disease".
- ↑ 5.0 5.1 "Management of retinal detachment: a guide for non-ophthalmologists".
- ↑ 6.0 6.1 "Thyroid Ophthalmopathy - EyeWiki".
- ↑ 7.0 7.1 "c.ymcdn.com".