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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|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 }}
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| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Retinoblastoma
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*< 3 years of age in 90%
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*Family history
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*Unilateral/bilateral
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*Leukocoria
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*Normal
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*USG:Intraretinal/subretinal mass with calcification
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| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Congenital Cataract
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*Presents at birth
*Lens opacification rare in retinoblastoma
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*Fundus examination reveals lens opacification
*Ultrasound shows increased echogenicity of lens
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| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Coats disease (exudative retinitis or retinal telangiectasis)
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*Most cases are unilateral
*Mean age at presentation is 6 years
*More common in males
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*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
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| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Persistent fetal vasculature (formerly known as persistent hyperplastic primary vitreous)
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*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
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*Measurement of axial length using fundus examination and ultrasound shows short axial length in persistent fetal vasculature
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| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Retinopathy of prematurity (ROP)
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*Generally occurs in premature children given high-dose oxygen
*Can result in total retinal detachment
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*Fundus examination: reveals gliotic-appearing retina, which is different from the retinal detachment associated with retinoblastoma
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| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Ocular toxocariasis
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*Generally causes vitreoretinal traction and ocular inflammation not seen in retinoblastoma
*
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*Fundus examination reveals the characteristic signs
*
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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 Differential diagnosis Retinoblastoma must be differentiated from other diseases that cause leukocoria . Differential diagnosis of leukocoria in children include:
The above table adopted from Clinical Ophthalmic Oncology book [ 1]
Differential diagnosis of leukocoria
Disease/Condition
Clinical presentation
Demographics/History
Diagnosis
Other notes
Retinoblastoma[ 2] [ 3]
Sporadic in 90% of the cases
The median age of diagnosis is 18 months
Bilateral in 70% of the cases
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 examination:
Complete retinal detachment
Absence of calcification
Exudative, mobile lipid material under retina
Fluorescein angiographyr 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 commonly accompanied with microphthalmia
presence of retrolental fibrovascular
+/- secondary cataract
Sporadic in the majority of cases
Always congenital (present at birth)
Rarely bilateral
P/E:microphthalmia and intraocular 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 with protein 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 and 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 in 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)
Oxygen supplementation
Leukocoria is the late presentation of the disease
Always bilateral
P/E:Bilateral retinal avascularity and nonperfusion 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 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 subtypes:
Macular granuloma
Peripheral granuloma
Endophthalmitis
Hereditary retinal syndrome
Generally causes vitreoretinal traction and ocular inflammation not seen in retinoblastoma
Fundus examination reveals the characteristic signs
References
↑ 1.0 1.1 1.2 1.3 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 . 
