This document discusses masquerade syndromes caused by neoplasms that mimic inflammatory conditions of the eye. It defines masquerade syndromes and notes they are rare. Primary examples discussed include primary intraocular lymphoma, which can present with blurred vision, floaters, and vitreous inflammation. Diagnosis requires identifying malignant cells in ocular specimens. Other primary neoplasms mentioned are choroidal lymphomas and melanomas. Secondary neoplasms and metastases that can cause masquerade syndromes include lymphomas, leukemias, and cancers such as lung and breast that metastasize to the choroid. Paraneoplastic syndromes without tumor cells in the eye are also discussed. Early recognition of the underlying malignancy

1. MASQUERADE
SYNDROMES :
NEOPLASMS Bipin Bista
Resident 2ND year
Ophthalmology
National medical College
& Teaching Hospital

2. Introduction
 Definition : Simulation of an inflammatory
condition by a neoplastic process.
 Rare group of disorder
 First used in the Ophthalmology by Theodore
in 1967 to describe conjunctival carcinoma.
 Infectious masquerade are potentially curable
while neoplastic masquerade can be life-
saving.

3. Primary Neoplasms
 Primary Intraocular (Vitreoretinal)
Lymphoma (PIOL/PVRL)
 Typically extranodal Non-Hodgkin’s
Lymphoma , diffuse large B cell lymphoma
with or without simultaneous CNS
involvement.
 Challenging malignancy
 6th – 7th decade.

4. PVRL – Clinical Features
 Blurred vision
 Floaters
 Vitreous cells
 Vitreous haze
 Anterior chamber
inflammation
 Keratic precipates
 Exudative RD or RPE
detachment
 PCNSL in HIV is 2-6 %, at least 1,000
timesmore thanaveragepopulation.

5. Diagnosis
 Definitive requires identification of malignant
lymphoma cells in ocular specimens.
 Specimens : Vitreous, aqueous , or chorioretinal
biopsy.
 Crucial to rule out with pathologist , MRI and LP
with CSF cytology.
 Chorioretinal biopsies & enucleation shows
lymphoma cells between RPE & Bruch’s
membrane
 Undiluted fresh vitreous – cell culture &
transported for processing.
 Cytology : atypical lymphoid cells with scanty
basophilic cytoplasm

7. Contd..
 High ratio of
Interleukin -10 to
Interleukin -6 (pro-
inflammatory
cytokine) is
suggestive of PVRL
& ratio is greater
than 1 has a
reasonable
sensitivity &
specificity but is not
diagnostic.

8. Treatment
 Multidisciplinary approach
 Sensitive to radiotherapy and chemotherapy
but the outcomes are still poor.
 Mainstay of therapy : Methotrexate with or
without RT has been mainstay of therapy with
an overall survival of 24-40 months.
 Cytarabine, Arabinoside, glucocorticoids and
temozolomide.
 Use of Anti- CD 20 monoclonal Ab.

9. Primary Choroidal Lymphomas and
Lymphoid Hyperplasia
 Typically extranodal marginal zone, MALT
lymphomas.
 Rare
 Not associated with CNS
 Multifocal cream choroidal infiltrates
 Choroidal thickening on USG
 Extraocular extension leading to orbital mass
or salmon colored conjunctival mass
 Responds to corticosteroids & low dose RT.

10. Melanoma
 Most frequent neoplasm of the eye.
 Seen in early 60’s mainly in white population.
 Presents with iridocyclitis, dilated episcleral
vessels (sentinel vessels)
 Choroidal granuloma, sectoral cataract,
posterior scleritis, secondary glaucoma or
retinal detachment.
 Treatment enucleation, brachytherapy or
charged particle radiation.

11. Secondary neoplasms and
metastasis
 Lymphoma & leukemia
 Usually confined to choroid.
 Less diagnostic challenge since most have
known history.
 Exhibit creamy choroidal/subretinal infiltrates.
 Most are MALT associated with good
prognosis (10 yr survival)
 Bad prognosis : Peripheral T cell lymphoma,
Mycosis fungoides.

12. Metastatic Carcinoma
 Particular to the choroid
 Lung and breast carcinoma
 b/l choroidal involvement with multifocal grey-
yellow lesions which are flat , can be
associated with vitritis, Exudative RD’s ‘
leopard spot’ pattern and papilloedema
 CNS metastasis have poor prognosis.

13. Paraneoplastic syndromes
 Presents with photopsia, dyschromatopsia,
vision loss, nyctalopia, photoaversion, mild
vitritis and less frequently macular edema, but
fundus can look normal in early stage.
 Vascular attenuation, optic nerve pallor, RPE
disturbances
 ERG & VF show scotomas and decreased rod
and cone responses.
 CAR is associated with Oat cell Carcinomas

14. PNS
 MAR is a common complication of metastatic
cutaneous melanoma.
 ERG shows negative b-wave with realtively
preserved photopic responses.
 Retinopathy precedes cancer in CAR while it
follows the diagnosis of melanoma by months
to years in MAR

15. BILATERAL DIFFUSE UVEAL
MELANOCYTIC PROLIFERATION
 Occurs in patients with occult carcinoma
 Characterized by multiple subtle sub retinal
reddish-brown lesions that show hyper
fluorescence on angiogram, exudative RD,
thickening of the uvea, mild uveitis and rapidly
progressive cataracts.
 Histopathology shows melanocytic
hyperplasia.

16. CONCLUSION
 The most important step to diagnose
neoplastic masquerade syndrome is clinical
suspicion.
 A thorough history, systemic review and
careful ophthalmic exam aided by appropriate
ancillary testing are required
 Early recognition of the malignancy is crucial
for both vision saving and life saving
outcomes, which can be achieved through
multidisciplinary approach.

17. Reference:
- Nussenblatt and whitecup 4th edition
- Myron yanoff 4th edition
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