masquerade syndrome
TRANSCRIPT
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Masquerade Syndrome
DR R PATEL
Name the common syndromes that masquerade as anterior and posterior uveitis and their diagnostic tests. 5+5 PAPER III DNB question Papers 2011 (June)
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Masquerade Syndrome Group of disorders simulating/mimic Ant. Or Post. Uveitis in their
C/F but are having entirely diff. etiopathogenesis being usually neoplastic or occasionally ischaemic
1967 :Theodore : used the term "Masquerade Syndrome" in ophthalmology to describe a case of conjunctival carcinoma that manifested as chronic conjunctivitis
Many are malignant; prompt dx needed.
Uveitis Masquerade accounts for 5 % of patients with uveitis in a tertiary care centre
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When to suspect ?
Masquerade syndromes should be considered : In the very young and in the elderly. with persistent idiopathic uveitis that is nonresponsive to corticosteroids
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Masquerade Syndromes Anterior Segment
Retinoblastoma Leukemia IOFB Malignant Melanoma JXG (Juvenile
xanthogranuloma) Peripheral RD
Posterior Segment Retinitis pigmentosa Reticulum Cell
Sarcoma Lymphoma Malignant Melanoma MS
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Masquerade syndromes Lymphoid malignancies
i. Lymphoma ii. Leukemia
Nonlymphoid malignancies i.Uveal melanoma i. Choroidal metastasis ii. Paraneoplastic syndromes
CAR(carcinoma-associated retinopathy)
MAR Bilateral diffuse uveal
melanocytic proliferation iv. Retinoblastoma v. Juvenile xanthogranuloma Vi .Medulloepitheliom
Nonneoplastic a. Chronic peripheral retinal
detachment b. Retinitis pigmentosa c. Intraocular foreign body d. Amyloidosis e. Vitreous hemorrhage f. Retinal vascular disease
i. Ocular ischemic syndrome ii. Hypertensive retinopathy iii. Diabetic retinopathy iv. Vascular occlusion
g. Coats diseasea
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Frequency of masquerade syndromes upon referral
Malignancy type Lymphoma (13) Leukemia (3) Melanoma (1) Metastasis (1) Retinoblastoma (1)
Nonmalignancy Retinal vascular disease
(10) Retinal Detachment (2) Coats' Disease (1) Other (8)
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INTRAOCULAR LYMPHOMA :INTRODUCTION
Synonyms : large B-cell lymphoma, reticulum cell sarcoma.
The most common neoplastic masquerader(68%) NHL involving eye is a rare cond. Which mimics ch.
Uveitis or post. Uveitis Ocular lymphomas occur in both primary &
secondary forms Site of origin of PCNSL is unknown Yet are able to grow only in these two
immunologically sequestered locations (CNS or eye)
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CLASSIFICATION of Lymphoma
1 Hodgkin disease may cause anterior uveitis, vitritis, and multifocal fundus lesions
resembling chorioretinitis. 2 Non-Hodgkin lymphoma may cause
conjunctival involvement, orbital involvement, Mikulicz syndrome and uveal infiltration.
3 CNS B-cell lymphoma may be associated with intermediate uveitis and sub-RPE infiltrates.
4 Primary intraocular lymphoma (PIOL) represents a subset of primary central nervous system
lymphoma (PCNSL
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Intraocular Lymphoma
Intraocular lymphoma can masquerade as a chronic infection and may be a sign of CNS malignancy.
Etiopathogenesis Malignant infiltration of choroid by
lymphomatous cells.
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PRIMARY INTRAOCULAR LYMPHOMA
Demographics Fifty to sixty years of age.
Ocular manifestations – Presentation unilateral floaters blurred vision red eye photophobia, which frequently becomes
bilateral after a variable interval.
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Intraocular Lymphoma :Signs
Mild anterior uveitis with cells, flare and keratic precipitates.
Vitritis: impede visualization of the fundus. Large solid multifocal subretinal infiltrates Occasionally coalescence of sub-RPE deposits may form a ring
encircling the equator Other features include
retinal vasculitis, vascular occlusion, exudative retinal detachment and optic atrophy.
Lack of CMO is an important diagnostic clue, since in true uveitis significant vitritis is almost always accompanied by CMO.
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Anterior segment of the eye of a patient with biopsy-prove intraocular large-cell lymphoma demonstrating corneal keratitic precipitates
Slit-lamp biomicroscopy examination revealing sheets ofvitreous cells characteristic of intraocular lymphoma
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Vitritis in patient with intraocular lymphoma. universal finding
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Multifocal subretinal infiltrates Shallow retinal detachment
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Infiltration of transformed peripheral T-cell lymphoma into the iris
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Subretinal infiltration of lymphoma cells
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Fundus photograph of patient with intraocular lymphomashowing retinal infiltrates and hemorrhage mimicking Cytomegalovirus retinitis.
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Obstructive hydrocephalus and cerebral lymphoma
Optic disc edema in human immunodeficiency virus-positive patient
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Chorioretinal infiltration of primary ocular and CNS large B-cell NHL
Masquerading as multifocal chorioretinitis
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PATHOLOGY
Thickening of detatched retina ( Pizza-Pie appearance )
Subretinal pigment elevation Vitreous infiltration FA shows blockage with a
granular characteristic, due to the presence of sub-RPE accumulation of lymphomatous cells (leopard skin spots).
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Intraocular Lymphoma Systemic Findings
Behavioral changes hemiparesis Ataxia
Special Tests MRI. Lumbar puncture. Vitreous biopsy for cytology, flow cytometry, interleukin-6 and -10, immunoglobulin heavy chain gene rearrangement.
Treatment and Management Radiation therapy. Chemotherapy (intrathecal methotrexate or cytosine arabinoside [ara-C]) . Biologic agents involving specific anti-B cell monoclonal antibodies (such as rituximab
Initial workup may be negative, but maintain a high clinical suspicion in uveitis refractory to treatment.
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MR image showing a hypointense multifocal lesion
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SYSTEMIC LYMPHOMA
Epidemiology Rare intraocular involvement, older adults
Ocular Manifestations: Vitreitis, retinal vasculitis, necrotizing retinitis, diffuse
choroiditis, focal uveal masses, AU, hypopyon Systemic Associations:
Lymphadenopathy, involvement of retroperitoneum, paranasal sinuses, orbits, meninges, bone marrow
Comments: ocular involvement may be initial sign average longevity of 31 months following ocular diagnosis
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RETINOBLASTOMA
Most common primary, malignant, intraocular tumour of childhood (1:20,000)
No sexual predilection Presents before age of 3 years (average 3
months) Heritable (40%) or non-heritable (60%) Predisposing gene (RPE 1) on 13q14 AU(1–3%), vitreitis, shifting white hypopyon
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Leukocoria - 60% Strabismus - 20% Secondary glaucoma
• Anterior segment invasion • Orbital inflammation • Orbital invasion
Presentations of retinoblastoma
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Early endophyliticretinoblastoma
White flat lesion Placoid lesion
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More advanced endophytic retinoblastoma
Friable white mass Cottage cheese appearance
Fine surface blood vessels Vitreous seedings
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Exophytic retinoblastoma
Multiglobulated white mass withoverlying retinal detachment
May be difficult to visualize through deep detachment
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Occasionally, tumor necrosis may produce significant inflammation.
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Right eye showing pseudo-hypopyon and tumour infiltrating the iris.
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Pseudohypopyon was an unusual first sign of retinoblastoma in a 6-year-old girl without a positive family history
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RETINOBLASTOMA
Investigations Ultrasound, aqueous tap USG, CT, MRI, Bonemarrow aspiration, lumbar
puncture Calcification(75%) on ultrasonography and CT
scan may help to differentiate retinoblastoma from various forms of childhood uveitis (toxoplasmosis, toxocariasis, cysticercosis, and pars planitis)
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CT diagnosis of retinoblastoma
Calcification
• Optic nerve involvement
• Orbital and CNS extension
• Pinealoblastoma
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Treatment Options of Retinoblastoma1. Small tumours
• Laser photocoagulation• Transpupillary thermotherapy• Cryotherapy
2. Medium tumours • Brachytherapy• Chemotherapy• External beam radiotherapy
3. Large tumours • Chemotherapy followed by local treatment• Enucleation
4. Extraocular extension• External beam radiotherapy
5. Metastatic disease• Chemotherapy
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CILIARY BODY MELANOMA
10% of uveal melanomas C/F 6 th decade Dilated episcleral vessels in same quadrants
(Sentinel vessels ) Astigmatism, Subluxation, Cataract RD Necrotic tumors may elicit an intense inflammatory
response associated with seeding of tumor cells into the vitreous cavity and anterior segment
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Ciliary body melanoma
• Rare - 12% of uveal melanomas
• Presentation - 6th decade
• May be discovered by chance
• Prognosis - guarded
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Signs of ciliary body melanoma
• Sentinel vessels • Extraocular extension
• Erosion through iris root • Lens subluxation or cataract• Retinal detachment
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CILIARY BODY MELANOMA
C/F Ant. Uveitis Investigations –
Tripple mirror contact lens, Transillumination, Ultrasonic biomicroscopy, Biopsy
Infiltration of malignant melanoma into the iris
Keratic precipitates, occasional intraocular cells, and posterior synechiae
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Treatment options of ciliary body melanoma
1. Iridocyclectomy - small or medium tumours
2. Enucleation - large tumours
3. Radiotherapy - selected cases
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Uveal melanoma
Epidemiology: 4.9% of 450 enucleation specimens had ocular
inflammation initially Ocular Manifestations:
Episcleritis, AU, PU, endophthalmitis, panophthalmitis
Systemic Associations: May have features of metastatic melanoma
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Choroidal melanoma• Most common primary intraocular tumour in adults
• Most common uveal melanoma - 80% of cases
• Presentation - sixth decade
• Prognosis - usually good
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Choroidal melanoma (1)
• Brown, elevated, subretinal mass• Occasionally amelanotic• Double circulation
• Secondary retinal detachment • Choroidal folds
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Choroidal melanoma (2)
• Surface orange pigment (lipofuscin) is common• Mushroom-shaped if breaks through Bruch’s membrane
• Ultrasound - acoustic hollowness, choroidal excavation and orbital shadowing
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Treatment of choroidal melanoma
1. Brachytherapy - less than 10 mm elevation and 20 mm diameter
2. Charged particle irradiation - if unsuitable for brachytherapy
3. Transpupillary thermotherapy - selected small tumours
4. Trans-scleral local resection - carefully selected tumours less than 16 mm in diameter
5. Enucleation - very large tumours, particularly if useful vision lost
6. Exenteration - extraocular extension
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LEUKAEMIAS :INTRODUCTION
Gp. Of neoplastic disorders ch. By abnormal proliferation of WBC.
Three types ALL- Children are affected AML- Worse prognosis,Adults more affected Chronic leukaemias – Elderly affected
Ocular findings in 28–75% with acute leukemia less with chronic
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LEUKAEMIAS OCULAR FEATURES
SCH Iritis & Hypopyon Diffuse & Nodular iris thickening Hyphaema Orbital involvement Optic neuropathy
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Anterior segment infiltration in acute myeloid leukemia (AML) presenting as hypopyon uveitis
Relapsing acute myeloid leukemia presenting as hypopyon uveitis Sapna P Hegde1, Atul T Ursekar2, Ajay A Chitale3
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LEUKAEMIAS Retinopathy
Venous tortuosity & dilatation
Flame shaped H’ge & ROTH SPOTS Cotton wool spots Peripheral retinal
neovascularisation LEOPARD SPOT
RETINA
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Leukemic infiltration of the retina
Masquerading as infectious chorioretinitis
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Diagnostic Tests
Bone marrowperipheral blood smearaqueous cytology
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JUVENILE XANTHOGRANULOMA
Vascular Tm. Affecting skin & eye
Important cause spontaneous hyphaema & seconary glaucoma
Epidemiology: 85% of skin lesions present before 1
year of age
Ocular Manifestations: Yellowish iris nodule or diffuse
thickening, heterochromia, spontaneous hyphema
Systemic Associations:Raised, reddish-yellowish skin lesions
Diagnosis iris biopsy or by finding similar lesions on the skin
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Metastatic tumors Epidemiology :
Most common intraocular malignancy in adults
Ocular Manifestations: Usually bilateral, multifocal,
plateau-shaped, yellow posterior segment lesions with SRF; anterior segment: AU, iris nodules, NVI
Systemic Associations : Lung and breast carcinoma most
common primary sites Cutaneous melanoma most
common metastasis to retina
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Long-standing peripheral rhegmatogenous retinal detachment
May produce a cellular reaction in the anterior or posterior chamber as well as PS.
Diagnostic Tests Ophthalmoscopy Ultrasound
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Retained intraocular foreign body
Retained intraocular foreign body associated with trauma may cause persistent anterior and/ or posterior segment inflammation.
Diagnostic Tests: X-ray Ultrasound CT scan( should demonstrate the abnormality)
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Retinitis pigmentosa
May present with vitreous cells and posterior subcapsular cataract The ‘‘bone spicule’’ pigment deposition in the retina,
attenuated retinal vessels, mottling and atrophy of the RPE, and waxy pallor of the optic nerve help to distinguish this disease from other disorders.
The diagnosis can be confirmed with an extinguished electroretinogram and ring scotoma on visual field testing.
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Kruckenberg’s spindle in a patient with pigment dispersion syndrome that masqueraded as anterior uveitis.
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Ocular ischemicsyndrome
Age (yr):50+ Signs of Inflammation
Cell Flare Redness
Diagnostic Tests: IVFA Carotid Doppler
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Ocular Ischemic Syndrome
What percent carotid obstruction is typically required to cause OIS? 90%
Describe the symptoms Gradual visual loss Aching pain Prolonged recovery following bright light exposure
What are anterior segment findings? Iris neovascularization (67%) AC cellular reaction (20%)
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Ocular Ischemic Syndrome Describe the posterior segment findings
Narrowed arteries Dilated, non-tortuous veins Mid-peripheral retinal hemorrhages, microaneurysms Neovascularization
What are the fluorescein angiographic findings? Delayed choroidal filling (60%) Delayed arteriovenous transit (95%) Vascular staining (85%)
What is the 5-year mortality rate and what is the most common cause of death? 40% Cardiovascular disease
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85yo chronic pain and redness OD
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Coats’ disease
Aspecific uveitis Vitreous infiltrates Fluorescein angiography
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Presentation of Coats disease• First decade, more common in boys• Always unilateral
Visual loss and strabismus White fundus reflex (leukocoria)
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Progression of Coats disease
• Retinal and subretinal hard exudation• Overlying vascular dilatation and tortuosity
• Slow progresssion of exudation• Exudative retinal detachment and retrolental mass
• May benefit from photocoagulation
• Treatment not beneficial • May mimic retinoblastoma
• Severe visual loss
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FA of Coats disease
Vascular malformations are highlighted
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Uveitis associated with medications
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CONCLUSION
It is clear that a number of entities can masquerade as idiopathic uveitis, and in the absence of a correct diagnosis inappropriate therapy may be prescribed.
The diagnosis of a masquerade syndrome should therefore be considered in the evaluation of all patients with undiagnosed inflammatory eye disease
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Thanks for your attention