Download common intraocular tumors - NSU College of Optometry

COMMON INTRAOCULAR TUMORS
Alan G. Kabat, OD, FAAO
Associate Professor
 (954) 262-1470
Nova Southeastern University
College of Optometry
 [email protected]
Course description: Intraocular tumors present a diagnostic dilemma for many clinicians. They
are seen quite infrequently, but by the same token may be potentially sight or even lifethreatening. It is often difficult to know just by looking at a tumor if it is benign and selflimiting, or if it has the propensity to cause harm. This hour will acquaint the clinician with the
most commonly encountered intraocular tumors, along with the most important considerations
regarding clinical diagnosis and treatment.
General considerations – the Nature of Cancer

Definition – cancer is a group of related disorders in which cells inappropriately grow and
divide at an excessive rate, while losing the ability to properly differentiate and execute
necessary metabolic functions
 Tumor – any abnormal mass or growth of tissue
 Neoplasm – “new growth”; a heritably altered, relatively autonomous growth of tissue
 Benign – lacking the ability to invade local tissues or spread to distant organs; not
necessarily “harmless” with regard to pathological effects
 Malignant – cancerous; displaying the propensity for local extension and metastasis
 Metastasis – the transfer of a disease from one organ to another not directly connected
to it; the process by which cancer disseminates throughout the body
Primary tumors
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Malignant neoplasms
Derived from the tissue(s) in which they grow
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Retinoblastoma
 Tumor of the sensory retina
 Most common intraocular tumor of childhood
 Highly malignant and metastatic
 Presentation:
 patients <5 years; mean age of dx is 18 months
 unilateral presentation in 75%
 common presenting signs:
 leukocoria (~60%)
 strabismus
 ocular inflammation (exophytic growth)
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ophthalmoscopic appearance:
 one or more convex, pink to white retinal masses
 lesion becomes whiter over time due to calcification
 often encounter vitreous “seeding”
 exophytic growth presents with signs of ocular or periocular/orbital
inflammation, i.e. orbital cellulitis
 advanced signs include:
 rubeosis irides
 EOM involvement
 optic nerve infiltration
 orbital extension
 distant metastasis
Ancillary testing
 ultrasonography
 CT scan (??)
 aqueous enzymes and cytology (paracentesis)
 intravenous fluorescein angiography (IVFA) of LITTLE VALUE!
 biopsy contraindicated due to increased risk of seeding
Treatment
 prompt and aggressive
 laser photocoagulation / cryotherapy – indicated for small, well-confined
tumors
 external beam irradiation / episcleral plaque radiotherapy – indicated for larger
solitary tumors or smaller tumors which have begun to seed
 enucleation – indicated in cases of:
 involvement of all or most of the retina
 invasion of anterior segment or optic nerve
 extensive vitreal seeding
 irreversible vision loss
 Prolonged follow-up and genetic counseling for survivors
Choroidal melanoma
 Uveal melanomas may affect the iris (~8%), ciliary body (~12%), or choroid (~80%)
 Most common primary intraocular tumor in adults
 Highly malignant, often rapidly progressive; highly metastatic, may affect:
 liver *
 lung
 brain
 skin
 GI tract
 Presentation:
 usually encountered in light-skinned patients aged 50 or older
 almost always unilateral
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common presenting symptoms:
 blurred vision / metamorphopsia
 most are asymptomatic, with lesions discovered on routine
examination
 relative scotoma
 ophthalmoscopic appearance:
 single, elevated circular to oval mass rooted in the choroid but
protruding under or through the sensory retina
 usually darkly pigmented – variable brown, black, gray-green
 less often, tumors may be amelanotic (white, cream-colored)
 lipofuscin may overly tumor mass
 “mushroom” or “collar-button” appearance if through Bruch’s
membrane
 associated exudative RD in some cases
Differential diagnosis
 choroidal nevus *
 metastatic choroidal carcinoma
 choroidal hemangioma
 CHRPE
Ancillary testing
 ultrasonography
 IVFA
 radioactive phosphorus uptake (P32)
 fine needle aspiration biopsy (FNAB) – controversial
Treatment
 Small tumors (<8 mm diameter ; < 3 mm height) – monitor q3-6 months with
ultrasound and photodocumentation
 Medium tumors (8-16 mm diameter ; 3-10 mm height) – treatment may
consist of laser photocoagulation, external beam or episcleral plaque
irradiation, or local choroidal resection
 Large tumors (>16 mm diameter ; >10 mm height) – enucleation is
recommended {treatment of last resort}
 co-management with the PCP or oncologist is recommended; systemic testing
may include:
 carcinoembryonic antigen (CEA)
 liver enzymes
 liver scan
 chest X-ray
 brain scan
 patients should continue to be seen at least biannually to monitor for
recurrence, metastasis, or development of new melanomas
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
Ciliary Body melanoma
 10-15% of all uveal melanoma
 usually diagnosed by secondary signs
 high astigmatism
 subluxation/cataract
 corectopia (pupil is misshapen)
 secondary glaucoma
 intrinsic vascular supply
Metastatic tumors
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Malignant neoplasms
Represent disseminated cancer cells from another organ/system
Poorest prognosis
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Choroidal metastatic carcinoma
 THE most common intraocular tumor in adults; based upon autopsy studies, NOT
clinical observation
 Most commonly encountered secondary to breast carcinoma (women) and lung
carcinoma (men); 10% are of UNKNOWN origin
 Highly malignant, rapidly progressive; exceedingly poor survival rate
 Presentation:
 usually encountered patients aged 50 or older
 often bilateral and multicentric
 distinct predilection for the posterior pole
 common presenting symptoms:
 blurred vision / metamorphopsia
 visual field defects
 floaters
 less commonly, patients are asymptomatic
 ophthalmoscopic appearance:
 placoid, oval or dome-shaped lesion or lesions
 creamy yellow in color with overlying golden brown geographic
deposits
 associated exudative RD in about 75% of cases
 Ancillary testing
 ultrasonography
 IVFA
 P32 is positive, but this is not diagnostic
 FNAB – can differentiate between this and melanoma, lymphoid tumor, or
granulomatous inflammation
 Treatment
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if clinically inactive in asymptomatic eye, observe q2-4 months; concurrent
chemotherapy may help to address metastatic lesions as well
larger, more active tumors may be treated with radiation therapy
enucleation indicated only in cases of intractable pain due to secondary
glaucoma
since prognosis for life is exceedingly poor, regardless of treatment, the least
amount of intervention is probably the most humane course
if there is a known history of cancer at the time of diagnosis, co-management
with the PCP or oncologist is suggested; if not an IMMEDIATE referral is
indicated
Vascular tumors
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Lesions are “benign”, insofar as they are not cancerous
Represent irregular growth from vascular tissues, at the level of the retina and/or choroid
Hemangioma – a benign tumor made up of newly formed blood vessels

Retinal capillary hemangioma (angiomatosis retinae)
 May be a component of Von Hippel-Lindau disease if associated with intracranial or
spinal cord hemangioblastoma (25% of cases)
 Presentation:
 most often encountered in 2nd or 3rd decade of life
 50% occur bilaterally
 predilection for the temporal periphery, but may occur anywhere, including the
optic disc
 common presenting symptoms:
 usually asymptomatic
 large lesions in the pole may induce macular exudate, leading to
reduced acuity
 ophthalmoscopic appearance:
 initially appears as a small, reddish lesion within the capillary beds
 later, more advanced lesions appear as a pinkish “balloon” between a
dilated arteriole and venule
 advanced lesions show a propensity for leakage, resulting in:
 intraretinal edema
 intraretinal hemorrhage
 exudate
 serous retinal detachment
 Ancillary testing
 typically, diagnosis is made by clinical appearance alone
 IVFA sometimes helpful; demonstrates early hyperfluorescence with leakage
into the late phases
 Treatment
 intervention is generally warranted, since the condition IS progressive and
larger lesions inevitable leak
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laser photocoagulation and cryopexy equally effective
neurologic consult, radiographic imaging indicated to r/o Von Hippel-Lindau
disease; genetic counseling indicated for those with the disorder
regular monitoring is indicated to evaluate for additional angiomas
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Cavernous hemangioma of the retina
 Consists of a connective tissue framework enclosing large, cavernous, vascular spaces
filled with blood
 As with angiomatosis retinae, may be associated with other CNS hemangiomas
 May demonstrate hereditary predilection (autosomal dominant, highly variable
penetrance)
 Presentation:
 usually encountered in white patients; average age of diagnosis = 23 years
 typically unilateral
 asymptomatic
 ophthalmoscopic appearance:
 dark red to purple, saccular vascular dilatations within the retina
 appearance is said to resemble a “bunch of grapes”
 often associated with overlying epiretinal membrane
 vast majority show NO secondary retinal edema or detachment
 Ancillary testing:
 typically, diagnosis is made by clinical appearance alone
 IVFA demonstrates classic “plasma-erythrocyte sedimentation”
 fluorescein pools superiorly in the tumor
 inferior tumor recesses remain hypofluorescent because of settled
blood cells
 leakage in late stages is exceedingly rare
 Treatment
 no intervention unless leakage is detected
 neurologic consult / imaging studies if suspect
 routine follow-up

Choroidal hemangioma
 May be associated with Sturge-Weber syndrome
 presents with choroidal, facial (“Port Wine Stain”), and meningeal angiomas
 complications include mental retardation and congenital glaucoma
 Thought to be congenital
 Presentation:
 usually detected in childhood when associated with Sturge-Weber; isolated
hemangiomas found at all ages
 usually involves posterior pole in one eye
 common presenting symptoms:
 blurred vision / metamorphopsia
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 relative scotoma
 rarely asymptomatic
 ophthalmoscopic appearance:
 reddish-orange, variably elevated subretinal mass
 obscures the normal choroidal vasculature
 results in “tomato ketchup” appearance; striking when compared to the
fellow eye
 accumulation of subretinal fluid (common) leads to serous RD
Ancillary testing:
 ultrasonography
 IVFA
 rapid hyperfluorescence with late stain
 NOT diagnostic!
 P32 is distinctly NEGATIVE; helpful in differentiation
Treatment
 no intervention if lesion is localized, asymptomatic, and stable; retinology
consult advised if unsure
 direct treatment includes laser photocoagulation, external beam irradiation, or
episcleral plaque radiotherapy to induce regression
 evaluate fully for secondary glaucoma, even in young people
 neurologic consult / imaging studies if suspect
Miscellaneous tumors -- A “sampling” of assorted, less common posterior segment masses

Choroidal osteoma
 Rare, benign tumor arising from the from peripapillary tissue
 Rarely progressive
 Histopathology reveals composition of mature bone
 Presentation:
 usually unilateral
 found on or near optic disc
 asymptomatic in most cases
 ophthalmoscopic appearance:
 white, elevated placoid juxtapapillary lesion
 may obscure underlying choroidal detail and retinal vasculature
 Ultrasound helpful as ancillary test; demonstrates highly reflective calcifications
 Treatment:
 routine monitoring
 IVFA if secondary choroidal neovascularization is suspected
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Melanocytoma
 Densely pigmented, benign optic nerve tumor; equivalent to a choroidal nevus
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Composed of large pigmented polyhedral cells which DISPLACE but do not
INVADE the disc tissue
Presentation:
 more common in dark-skinned individuals
 typically unilateral
 predilection for inferior aspect of the optic disc
 usually asymptomatic, however:
 25% have BVA <20/30
 visual field defects are possible
 afferent pupillary defect present in ~30%
 ophthalmoscopic appearance:
 variably elevated, gray to black lesion within the area of the nerve
head; may extend beyond the borders of the disc
 occasionally associated with disc edema, vascular sheathing, or
subretinal fluid
Potentially progressive but usually stable
Management consists of photodocumentation and annual to biannual evaluation for
signs of associated edema or malignant conversion
Astrocytic hamartoma
 Benign, congenital retinal tumor
 Often associated with tuberous sclerosis or neurofibromatosis
 Composition consists of astrocytes, calcium, assorted cellular debris
 Presentation:
 no age, race, or sex predilection
 most often found on or near the optic nerve, but can be encountered anywhere
in the retina
 typically singular and unilateral; may be bilateral (~15%) and/or multifocal
 visual acuity, fields, pupillary response similar to those encountered in
melanocytoma
 ophthalmoscopic appearance:
 translucent yellow to white (calcific) multilobulated, elevated mass
 classically described as a “mulberry lesion”
 lesions tend to grow slowly and become more calcific over time
 Ultrasonography may aid in differential diagnosis
 Management consists of education, photodocumentation, and annual monitoring;
referral or co-management with the appropriate disciplines is indicated when
associated with systemic disease
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