Intraocular tumours

Nur Aisyah Binti Idris068

Contents

• Tumours of uvea tract • Tumors of retina• Tumors of optic nerves

Tumours of uveal tract

Classification • Tumours of choroid : Benign 1) naevus

2) hemangioma 3) melanocytoma 4) choroidal osteomaMalignant 1) melanoma

• Tumours of ciliary body : Benign : 1) hyperplasia

2) benign cyst 3)medulloepitheliomaMalignant : 1) melanoma

• Tumours of iris :Benign : 1) naevus 2) benign cyst 3)naevoxanthoendotheliomaMalignant : 1) melanoma

Tumours of choroidNaevus• Asymptomatic lesion• Diagnose: fundus examination• Flat, dark grey lesion with

feathered margin• a/w overlying colloid body• May undergo malignant

change:– Increase pigmentation/ height

of naevus– Appearance of orange patches

of lipofuscin– Appearance of serous

detachment

Choroidal hemangioma• 2 forms:• Localised choroidal

heamangioma• Raised, domeshaped,

salmon pink swelling• Situated at the posterior

pole of the eye• Serous detachment,

cystoid degeneration, pigment epithelial mottling

• Diffuse choroidal haemangioma

• a/w sturge-weber syndrome

• Diffuse deep red discoloration of fundus

Melanocytoma• Rare tumor• Jet black lesion around

the optic disc

Choroidal osteoma• Very rare benign tumor• Elevated, yellowish-

orange lesion• Affect young women

Malignant melanoma of choroid• Most common primary IOT • 40-70years of age• Rare in black, > common in

white• Arise from neural crest• unilateral Gross Pathology:• pre-existing naevus/ denovo• 2 form: circumscribed,

diffuse

Histopathology : Modified Callender’s classification

• Spindle cell melanomas : spindle shape cells (best prognosis).

• Epitheloid cell melanomas : large, oval or round, pleomorphic cells with larger nuclei and abundant acidophilic cytoplasm (worst prognosis).

• Mixed cell melanomas : both spindle & epitheloid tumours (intermediate prognosis)

• Necrotic melanomas: predominant cell type is unrecognizable.

Clinical features1. Quiescent stage :

– Symptoms depend upon the location and size of tumour.– Small tumour – located in the periphery may not produce any symptoms– tumours arising from the post. pole present with early visual lost.– Sign: appearances of orange patches in the pigment epithelium.

– large tumour – penetrate through Bruch’s membrane grows in subretinal space

characterised by exudative retinal detachment– produces marked loss of vision and gradually tumour fills the whole

eye.– Other associated features : sub/intraretinal hemorrhage, choroidal

folds, & vitrous hemorrhage.

2. Glaucomatous stage : – Glaucoma may develop due to obstruction of

venous outflow by pressure on vortex veins, blockage of the angle of ant. chamber

– Sx : severe pain, redness, watering – Signs : chemosed & congested conjunctiva,

oedematous cornea, shallow anterior chamber, fixed & dilated pupil,lens opaque, increase IOP (stony hard eye), features of iridocyclitis.

3. Stage of extraocular lesion : – the tumor may burst through sclera usually at the

limbus.– Rapid fungation and involvement of extraocular

tissues resulting in marked proptosis.4. Stage of distant metastasis :– Hematologic spread commonly occurs in liver &

commonest cause of death.

Differential diagnosis

• During quiescent stage :– Small tumour w/o exudative retinal detachment :

naevus, melanocytoma, hyperplasia of the pigment epithelium.

– Tumour with exudative retinal detachment : simple retina detachment, choroidal haemangioma.

• During glaucomatous stage : acute glaucoma

Investigation

• Indirect opthalmoscopic examination • Transillumination test • USG : A and B scan• Fluorescein angiography • Radioactive tracer• MRI

Treatment • Observation : in small and asymptomatic lesion with

absence of suspicious features.• Conservative : – Brachytheraphy– External beam radiotheraphy– Transpupillary thermotheraphy– Trans-scleral local resection– Stereotactic radiosurgery

• Enucleation : > 16mm x 10mm• Exenteration or debulking with chemotherapy• Palliative treatment with chemotherapy &

immunotherapy : distant metastasis

Prognostic indicators

• increasing age.• large tumour.• Involvement of extrascleral or vortex veins.• Ciliary melanoma worst than choroidal melanoma.• Cell type : spindle A (best prognosis) > mixed >

epitheloid (worst).• Prognosis worsen with nucleolar size variation, vascualar

loops and mitotic activity.• Monosomal 3 and partial duplication of chromosomal 8

increase risk of metastasis.

Tumor of ciliary body

Hyperplasia and benign cyst• Insignificant lesion of ciliary bodyMedulloepithelioma• Rare congenital tumor arising from non

pigmented epithelium of CB• Present in 10 years of life

Malignant melanoma of CB• Usually diagnosed very late• Extent anteriorly, posteriorly or circumferentially• Clinical features:• Slight hypotony, unaccountable defective vision, localised

sentinel dilated episcleral veinAnterior spreading:• Anterior displacement, subluxation & cataract formation

of lens• Secondary glaucoma• Epibulbar mass

• Posterior spread: Exudative retinal detachment

• Pathological feature: same as choroidal melanoma

• Treatment: enuclation, local resection

Tumors of iris

Naevus• Most common lesion• Flat, pigmented, circumscribed lesion of variable size• Rare of malignant changeNaevoxanthoendothelioma• Rare fleshy vascular lesion• Seen in babies• Cause recurrent hyphaema• treat: x-ray & steroids

Malignant melanoma• Single/ multiple rapidly growing vascular nodule• Spread in angle 2° glaucoma• May penetrate through limbusepibulbar mass• Treat: – wide iridectomy– Iridocyclectomy– enuclation

Tumours of retina

Primary tumours

1. Neuroblastic tumours. Arise from sensory retina (retinoblastoma & astrocyotoma) and pigment epithelium (benign epithelioma & melanotic malignant tumours).

2. Mesodermal angiomata : cavernous haemangioma.3. Phakomatoses :

angiomatosis retinae(von hippel-Lindau disease), tuberous sclerosis (Bourneville’s disease), neurofibromatosis (Von Recklinghausen’s disease), encephalofacial angiomatosis (Sturge-Weber syndrome).

Secondary tumours

• Direct extension : from malignant melanoma of choroid.

• Metastatic carcinoma from GIT, genitourinary tract, lungs, & pancreas.

• Metastatic sarcomas• Metastatic malignant melanoma from skin

Retinoblastoma • Most common IO tumour in childhood

occurring 1 in 15000-20000 of childbirth age between 1-2 years old.

• 25-30% effects bilaterally where one eye is affected more and earlier than the other.

• Due to deletion of 14 band on the long arm of chromosome 13 (13q 14)

• 10% are hereditary and 90% are sporadic.

• Origin:Arises as malignant proliferation of immature retinal neural cells which are small round cells with large nuclei

• Histopathology - Small round cells with large nuclei (resemble cells of

nuclear layer of retina)

- Highly undifferentiated/ well- differentiated tumour

• - Microscopic –Flexner-Wintersteiner rosettes, Homer-Wright rosettes, pseudorosettes, fluorettes formation.

Pathology

Clinical features

Leucocoria 60%

Strabismus 20%

Painful red eye 7%

Poor vision 5%

Orbital cellulitis 3%

Unilateral mydriasis 2%

Heterochromia iridis 1%

Hyphema 1%

1. Intraocular stage of RB2. Stage of extraocular exntension3. Stage of distant metastasis

Stages of retinoblastoma

Intraocular stage Quiescent presentation

Leucocoria

Yellowish- white pupillary reflex(amaurotic cat’s eye) commonest presentation

Squint

Usually convergent, 2nd commonest presentation

Nystagmus

Rare features, noticed bilateral

Defective vision

• Endophytic • Exophytic • Diffuse

infiltrating

Ophthalmoscopic features

Very rare, late manifestation (3-5 years)

Endophytic retinoblastoma • Grows inwards from retina into vitreous cavity• Tumour like well

circumscribed polypoid mass of white or pearly

pink • In presence of calcification, typical “cottage cheese”

Exophytic retinoblastoma • Grows outwards and

separate retina from choroid

• Appearance of exudative retinal

detachment

Diffuse infiltrating tumours

• Placoid thickness of retina and not a

mass• Usually diagnose late

• When left untreated, some patient may present with severe pain, redness and watering

• These symptoms occur either due to acute secondary glaucoma or apparent intraocular inflammation or orbital cellulitis

Painful red eye presentation

• Stage of extraocular extension – progressive enlargement of tumour, the globe

burst through the sclera, usually near limbus or optic disc

– followed by rapid fungation and involvement of extraocular tissue resulting in mark proptosis.

• Stage of distant metastasis– Lymphatic spreads first occurs in preauricular &

neighbouring LN.– Direct extension by continuity to the optic nerve &

brain is common.

Classification : ICRB

Group A (very low risk)

include all small tumours <3mm in greatest dimension, confined to retina, located >3mm from fovea, and >1.5mm from optic disc margin.

Group B (low risk)

include large tumours >3mm in dimension, and any size tumours located <3mm from fovea, & <1.5mm from optic disc margin.

Group C (moderate risk)

include retinoblastoma & focal seeds characterized by subretinal and or vitreous seeds ≤3mm from RB.

Group D (high risk)

include retinoblastoma & diffuse seeds characterized by subretinal and or vitreous seeds >3mm from RB.

Group E (very high risk)

include extensive RB characterized by any of the following :Tumour touching the lens, neovascular glaucoma, tumour anterior to anterior vitreous face involving ciliary body and anterior segment, diffuse infiltrating tumours, opaque media with haemorrrhages

Differential diagnosis• Leukoria : – congenital cataract, inflammatory deposits following

a plastic cyclitis or choroiditis, coloboma of choroid, retrolental fibroplasia, toxocara endophthalmitis, exudative retinopathy of Coats.

• Endophytic RB : – retinal tumour in tuberous sclerosis,

neurofibromatosis, astrocytoma, exudative choroiditis.

• Exophytic RB : Coat’s disease.

Diagnosis Examination under

anaesthesia Plain x-ray orbit

Lactic dehydrogenase

Ultrasonography and CT/MRI

Performed on suspected case. Measure intraocular pressure & corneal diameter

Show calcification which occurs 75% cases of retinoblastoma

Level is raised in aqueous humour

Useful diagnosisCT/MRI demonstrate extension to optic nerve, orbit and CNS

Treatment A ) Conservative tumour destructive therapy : if diagnosed early• Chemotherapy : • Focal therapy : cryotherapy, laser

photocoagulation, thermotherapy, plaque radiotherapy, external beam radiotherapy.

B ) Enucleation for group E patients when :– Tumour involve more than half of retina.– Optic nerve is involved.– Glaucoma is present and ant chamber is involved.

C ) Palliative therapy : when prognosis is bad in spite of aggressive treatment.– RB with orbital extension– RB of intracranial extension– RB with distant metastasis

• Should include combination of :

Prognosis

• untreated prognosis -always bad• rarely spontaneous regression of the eyeball get

shrunk due to necrosis by immunological action.• enucleated before occurrence of extraocular

lesion, survival rate is 70-85%.• Poor prognosis when optic nerve involvement,

undifferentiated tumour cells, massive choroidal invasion.

Phacomatoses • Group of familial condition which characterized by

development of neoplasm in eye, skin, and CNS.1. Angiomatosis retinae (Von Hippel Lindau’s syndrome)– Involve retina, brain, spinal cord, kidneys, and

adrenals.– C/F : vascular dilatation, aneurysm( balloon-like

angiomas), hemorrhage and exudates leading to retinal detachment.

– Treat: cryopexy/ photocoagulation.

2. Tuberous sclerosis (Bourneville disease)– Triad of adenoma sebaceum, mental retardation,

and epilepsy associated with hamartomas of brain, retina, and viscera.

– potato-like appearance– 2 tyepe:• relatively flat & soft appearing white / grey

lesion (posterior pole),• large nodular tumor common seen in optic disc

3. Neurofibromatosis (Von Recklinghausen’s disease)– Multiple tumours in the skin, nervous system, and other

organs.– Cutaneous manifestation: vary from café-au-lait spots to

Neurofibromata– Ocular manifestation : neurofibromas of lids and orbits,

glioma of optic nerve, and congenital glaucoma.4. Encephalofacial angiomatosis (Sturge-Weber

syndrome).– Angiomatosis in the form of port-wine stain (naevus

flammeus), involving one side of the face which may be ass with choroidal hemangioma, leptominingeal angioma, and congenital glaucoma on affected side.

Retinal Astrocytoma • Aka Retinal astrocytic hamartoma • benign, acquired, retinal or papillary neoplasias, often found

in association with the tuberous sclerosis complex • also be associated with neurofibromatosis type 1 (NF-1)• rarely be found independently to any systemic diseases. Reti• progressive lesions, always asymptomatic, • detected either on routine or screening fundus

examinations in patients with TSC or NF-1• usually located in the inner layers of the retina or the optic

disc, obscuring the retinal vessels.

• Dd(x): retinoblastoma, choroidal melanoma• Funduscopy: a milky gray–white appearance,

depending on their amount of calcification • Histopathology: spindle-shaped or even

pleomorphic retinal astrocytes and can have various amounts of calcification.

• Investigation: fluorescein angiography• Treatment • almost never required, • growing lesions, where photodynamic therapy

can be effective.

(A)Small noncalcified astrocytic hamartoma in a patient with tuberous sclerosis complex.(B)Large heavily calcified astrocytic hamartoma in an otherwise asymptomatic patient.

Retinal cavernous hemangioma

• rare vascular hamartomas• autosomal dominant pedigrees Genotyping for three

known cerebral cavernous malformation, or CCM, genes

• Usually unilateral and rarely increase in size• always asymptomatic• CF: Skin and central nervous system hemangiomas

may co-exist• Fundus examination : dark intraretinal aneurysms with

characteristic "cluster-of-grapes" appearance. macular involvement or vitreous hemorrhage

Investigation: neuroimagingTreatment:• observation is the best management. • photocoagulation has been used in some casesprognosis• localized cavernous hemangioma of the retina

retain good vision• visual loss secondary to vitreous hemorrhage

or contraction of the preretinal membrane overlying the tumor may occur.

Tumours of optic nerve

Optic nerve tumor

• Optic nerve glioma• Slow growing tumor, astrocytes• First decade of life• Solitary tumor/ part of Von Recklinghausen’s NF• CF: gradual visual loss, painless unilateral axial

proptosis, 4-8 years• Fundus exm: optic atrophy / papilloedema &

venous engorgement

• Diagnosis: clinical diagnosis– X-ray: uniform regular rounded enlargement of

optic foramen – CT scan & USG: fusiform growth

• Treatment:– Observation– Surgical excision– radiotherapy

Meningiomas • Invasive tumor arising from arachnoid villi• 2 type: 1° & 2°Primary intraorbital meningiomas• Aka optic nerve sheath meningiomas• Rare benign tumor of meningoepithelial cells of

meninges• Mid-age, female>, a/w NF-2• CF: early visual loss a/w limitation of ocular

movement, optic disc edema/ atrophy, slowly progressive unilateral proptosis

• During intradural stage indistinguishable from optic nerve glioma (clinically)

• Presence of opticociliary shunt (hallmark) ONSM

• Ct scan is diagnostic investigation• Treatment: –Observation– Surgical excision

• Prognosis = good

Secondary intraorbital meningiomas• Secondarily invade the orbit• Arise from the sphenoid bone or involve it

enroute to the orbit • Orbital invasion : floor of ant. Cranial fossa,

superior orbital fissure, optic canal• Meningioma enplaque affect greater & lesser

wings of sphenoid taking origin in the region of pterion (common variety affecting orbit)

• Mid-age women

• CF: greater proptosis, visual impairment, boggy eyelid swelling, ipsilateral swelling temporal region of face (ICT arise from lat. Part of sphenoid ridge)

• Ct scan useful in assessing extent of tumor• Management: – Observation– Subtotal resection– Postoperative radiotherapy

References

• Comprehensive ophthalmology, 6th edition, AK Khurana

• http://atlasgeneticsoncology.org/Tumors/EyeTumOverviewID5272.html

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