Ординатура / Офтальмология / Английские материалы / Oxford American Handbook of Ophthalmology_Tsai, Denniston, Murray_2011

496 CHAPTER 15 Intraocular tumors

Ciliary body tumors

Ciliary body melanoma

These account for around 12% of all uveal melanomas (p. 494). They most commonly present around 50–60 years of age. In contrast to iris melanomas, they usually contain the more anaplastic epithelioid melanoma cells and carry a worse prognosis (see Table 15.2).

Clinical features

•Usually asymptomatic; occasionally visual symptoms.

•Ciliary body mass (may only be visible with full dilation); dilated episcleral sentinel vessels; anterior extension onto the iris or globe; lens subluxation or secondary cataract; anterior uveitis.

Investigation

•B-scan ultrasound: size, extension, composition.

•Biopsy: consider fine needle aspiration.

Treatment

Specialist consultation and advice should be obtained. Options include the following:

•Excision may be possible for smaller lesions.

•Radiotherapy: brachytherapy or proton beam.

•Enucleation for larger lesions or significant extension.

Medulloepithelioma

This is a rare, slow-growing tumor derived from immature epithelial cells of the embryonic optic cup. It usually arises from the nonpigmented ciliary epithelium, but iris and retinal sites are occasionally seen. Overall, local invasion is common but metastasis is rare.

Age of onset ranges from infant (congenital) to adult but is usually under the age of 10; both sexes are equally affected.

Clinical features

•Red eye, decreased VA, iris color and contour change/mass.

•Injection, ciliary body mass (amelanotic, often cystic), cyclitic membrane.

•Complications: neovascular glaucoma, lens coloboma/subluxation/cataract.

Investigation and treatment

Diagnosis may be assisted by ultrasound. Iridocyclectomy may be curative for small, well-defined, benign tumors; for most others, enucleation is still required.

Table 15.2 Differential diagnosis of ciliary body melanoma

498 CHAPTER 15 Intraocular tumors

Box 15.2 Suspicious features suggestive of choroid melanoma

•Symptomatic

•Juxtapapillary

•Subretinal fluid/retinal detachment

•Lipofuscin on the surface

•Large size (e.g., >2 mm thickness)

•Significant growth

•iIOP

Table 15.3 Differential diagnosis of choroidal melanoma

Investigations

•Ultrasound: mass, acoustically hollow, low internal reflectivity, with choroidal excavation. Retinal detachment can be present.

•CT and MRI may detect extraocular extension but cannot reliably differentiate between types of tumor.

•Biopsy: fine needle aspiration biopsy may be performed in selected cases.

•Systemic assessment: CBC, LFT, liver/abdominal US (or CT, MRI).

At the time of presentation, most patients (98%) do not have detectable metastatic disease. The remaining 2% usually have large intraocular tumors with extraocular spread.

Treatment

Specialist consultation and advice should be obtained. Options include the following:

•Observation for small choroidal melanocytic lesions without suspicious features.

CHOROIDAL HEMANGIOMAS 501

Choroidal hemangiomas

Choroidal hemangiomas are benign vascular hamartomas. Although congenital, they are usually asymptomatic until adulthood when secondary degenerative changes of the overlying RPE and retina may cause visual loss.

Two clinical patterns are seen: circumscribed and diffuse. Histologically, they comprise mainly cavernous vascular channels (with normal endothelial cells and supporting fibrous septa) but with some capillary-like vessels (especially in the diffuse form).

Circumscribed choroidal hemangioma

This form is isolated, may be asymptomatic, and has no systemic associations. It is usually static but may grow in pregnancy.

Clinical features

•Poorly demarcated, elevated, orange-red choroidal mass; usually 3–7 mm diameter, 1–3 mm thick; located around the posterior pole (within 3 mm of disc or foveola) (Fig. 15.2).

•Complications: fibrous change of RPE, cystic change, or serous detachment of the retina.

Investigations

•Ultrasound: high internal reflectivity

•FA: early hyperfluorescence of intralesional choroidal vessels, followed by diffuse hyperfluorescence of the whole lesion (Fig. 15.3).

•ICG: early cyanescence of intralesional choroidal vessels, followed by intense cyanescence of the whole lesion and subsequent central fading (washout).

Treatment

Specialist consultation and advice should be sought. Options include observation, photodynamic therapy (PDT), transpupillary thermotherapy, thermal laser therapy, or irradiation.

Diffuse choroidal hemangioma

This form is usually associated with other ocular and systemic abnormalities, forming part of the Sturge–Weber syndrome.

Clinical features

•Deep-red (cf. normal other eye) thickened choroid, particularly at the posterior pole; may have tortuous retinal vessels, fibrous change of RPE, cystic change, or serous detachment of the retina and disc cupping.

•Complications: fibrous change of RPE, cystic change or serous detachment of the retina, glaucoma.

Investigations

•Ultrasound: diffuse choroidal thickening with high internal reflectivity.

•MRI brain: if CNS hemangioma suspected as part of Sturge–Weber syndrome (Table 15.4).

Treatment

Specialist consultation and advice should be sought. Options include PDT, TTT, or irradiation. Coordinate care with a neurologist if there is cerebral involvement.

502 CHAPTER 15 Intraocular tumors

Figure 15.2 Peripapillary choroidal hemangioma with slight elevation of the mass and associated RPE atrophy. See insert for color version.

Figure 15.3 Fluorescein angiogram of the choroidal hemangioma demonstrated area of hyperfluroscence due to window defects early in the study and leakage late on the angiogram. See insert for color version.

Table 15.4 Features of Sturge–Weber syndrome

OTHER CHOROIDAL TUMORS 503

Other choroidal tumors

Choroidal osteoma

This is a rare, benign tumor of the choroid. Originally thought to be a choristoma, it is now felt to be an acquired neoplasm in which mature bone replaces choroid with damage to overlying RPE and retina.

Typically, it is seen in young adult women (F:M 9:1); it may be bilateral in 20%.

Clinical features

•Gradual decreased visual acuity, metamorphopsia.

•Yellow well-defined geographic lesion, usually abutting or surrounding optic disc; superficial abnormalities include prominent inner choroidal vessels and irregular RPE changes.

•Complications: CNV.

Investigations and treatment

•US: highly reflective with acoustic shadow.

•CT: bone-like signal from posterior globe.

•FA: early mottled hyperfluorescence and late diffuse hyperfluorescence. Although treatment of the tumor itself is not indicated, CNV may be treated conventionally.

Choroidal metastasis

These are the most common intraocular malignant neoplasms. Usually patients are already known to have a primary tumor (Box 15.3), but in around 25% of cases the first clinical manifestation may be an ocular problem.

Although the choroid is the primary site, metastasis may occur in the iris, ciliary body, retina, and vitreous, and the optic nerve may be involved. Bilateral involvement is seen in around 20% of patients.

Clinical features

•dVA, metamorphopsia; may be asymptomatic.

•Yellow-white (breast, lung, GI tract) ill-defined lesion (Fig. 15.4); it is usually fairly flat but may have associated exudative retinal detachment.

•Color variation: consider cutaneous malignant melanoma if lesion is black, renal cell carcinoma or follicular thyroid carcinoma if redorange, and carcinoid if golden-orange.

Investigations and treatment

Ocular

•US: high internal reflectivity.

•FA: no or few large vessels within the tumor, early hypofluorescence, and late diffuse hyperfluorescence. ICG may show tumors not detected on FA.

•Fine needle aspiration (FNA): consider FNA if there is diagnostic uncertainty and no extraocular tissue available for biopsy.

504 CHAPTER 15 Intraocular tumors

Figure 15.4 Large peripheral subretinal metastatic ovarian carcinoma. See insert for color version.

Systemic

This should be coordinated with a PCP and/or oncologist and include a complete examination (including breasts, prostate, lymph nodes, skin) and selected testing (e.g., CXR, mammography).

Treatment will depend on the lesion, visual status of the eye, and general health of the patient. Options include observation, chemotherapy, radiotherapy (plaque, proton-beam), or occasionally enucleation.

Box 15.3 Most common primary tumors metastasizing to the eye

RETINOBLASTOMA (RB) 505

Retinoblastoma (Rb)

This is the most common primary malignant intraocular tumor of childhood. Lifetime incidence is 1 in 15,000. It is rare after the age of 6 years, with median presentation between 1 and 2 years of age (earlier for bilateral disease). There is no gender or racial predilection.

The tumor arises from primitive retinoblasts of the developing retina with loss of function of the Rb tumor suppressor gene (Ch13q14). Loss or inactivation of both Rb copies is required (Knudson’s two-hit hypothesis); in 60% of cases both mutations are acquired, whereas in 40%, one of the abnormal genes is inherited.

Over 90% of cases are sporadic (with no family history). In most of these cases the mutation is somatic (arising sufficiently late not to be heritable) and gives rise to isolated unilateral disease.

In contrast, the familial cases and around one-third of the sporadic cases result from germline mutations, which are heritable and give rise to bilateral multifocal disease. Germline mutations carry a 90% penetrance: 90% of these patients will develop retinoblastoma.

Characteristic histological features include abnormal patterns of retinoblasts such as the Flexner–Wintersteiner rosettes, Homer-Wright rosettes, and fleurettes.

Clinical features

•Leukocoria (60%) (see Box 15.4), strabismus (20%), decreased VA, acute red eye, orbital inflammation.

•White, round retinal mass with endophytic (towards vitreous), exophytic (toward RPE/choroid), mixed, or diffuse infiltrating growth pattern.

•Endophytic tumors tend to be friable with prominent superficial vessels and vitreous seedings.

•Exophytic tumors are associated with exudative retinal detachments (which are often large and may even be total).

•Diffuse infiltrating tumors show generalized retinal thickening with vitreous (and even aqueous) seeding but no calcification.

•Complications: glaucoma, buphthalmos/corneal edema, iris invasion, pseudohypopyon, rubeosis, hyphema, orbital inflammation, phthisis bulbi, invasion of optic nerve or brain, metastasis.

Investigations

•US: intralesional calcification with high internal reflectivity and acoustic shadow.

•CT/MRI: CT is better for imaging the retinoblastoma itself (calcification high density), but MRI is preferred for assessing any intracranial involvement (extension or associated tumors).

Treatment

This requires significant multidisciplinary input and should be coordinated by a recognized center. Various options can be considered.

Photocoagulation or transpupillary thermotherapy:

Consider for small posterior tumors without optic nerve involvement or vitreous seeding.