Carol L. Shields

BASICS

DESCRIPTION

Benign vascular hamartomatous tumors of the choroid. Present in 2 forms based on extent of choroidal involvement:

• Circumscribed choroidal hemangioma (CCH): Solitary tumor with no systemic associations

• Diffuse choroidal hemangioma (DCH): Usually in association with Sturge-Weber syndrome (SW syndrome) (encephalofacial angiomatosis)

EPIDEMIOLOGY

Incidence

• CCH is a rare tumor.

– Only 200 patients with CCH were diagnosed on the Oncology Service at Wills Eye Institute between 1974 and 2000 compared with more than 10,000 patients with choroidal melanoma in the same time period.

• DCH is a very rare tumor.

– Half of patients with SW syndrome have DCH.

RISK FACTORS

Genetics

• There is no known genetic predisposing factor for CCH.

• SW syndrome is entirely sporadic but several somatic mutations have been described in association with this condition.

COMMONLY ASSOCIATED CONDITIONS

• CCH is a sporadic condition with no associated ocular or systemic conditions.

• DCH is a manifestation of SW syndrome. Other features of this syndrome include:

– Cutaneous nevus flammeus in the distribution of the first or second branches of the trigeminal nerve (Port-wine stain)

– Leptomeningeal hemangioma ipsilateral to the cutaneous nevus flammeus

– Seizure (80%)

– Hemiparesis/hemiplegia

– Mental retardation

– Ocular features:

Eyelid nevus flammeus (95–100%)

Prominent episcleral vessels (70%)

Glaucoma (70%)

Diffuse choroidal hemangioma (DCH) (50%)

DIAGNOSIS

HISTORY

• Both CCH and DCH presents with painless visual loss or metamorphopsia (1).

– CCH usually causes symptoms in the third to sixth decades of life.

– DCH generally becomes symptomatic earlier in life (First or second decades).

PHYSICAL EXAM

• CCH presents as a circumscribed, round, orange–red elevated choroidal mass. Other typical features include:

– Unilateral

– Posterior to equator

– Serous retinal detachment (RD) (common)

– Overlying retinal pigment epithelial (RPE) changes (atrophy, hyperplasia, fibrous metaplasia, lipofuscin clumps)

– Overlying retinal edema (cystoid macular edema in sub- or peri-foveal tumors)

– Lipid exudation is rare

• DCH presents as diffuse orange thickening of the choroid referred to as the “tomato catsup” fundus

– Other ocular features of SW syndrome are present (see “Commonly associated conditions”)

– Extensive serous RD and RPE alterations are common

– Neovascular glaucoma secondary to long-standing RD can develop

DIAGNOSTIC TESTS & INTERPRETATION

Lab

Initial lab tests

• Angiography: Both fluorescein angiography (FA) and indocyanine green angiography (ICGA) are helpful in establishing the diagnosis of CCH.

– Fluorescein angiography: Lacy hyperfluorescence in prearterial or early arterial phase followed by late staining and leakage.

– Indocyanine green angiography: Early intense hyperfluorescence followed by «dye washout » in late frames (tumor hypofluorescence with surrounding rim of hyperfluorescence).

• Ultrasonography

– CCH: Solid dome-shaped tumor on B-scan with acoustic features similar to adjacent normal choroid. A-scan shows high internal reflectivity.

– DCH: Acoustic features are similar to CCH but choroidal thickening is more diffuse.

• Optical coherence tomography (OCT) is a useful tool for detection of associated retinal changes such as retinal edema, retinal atrophy, or minimal serous RD.

Follow-up & special considerations

• Ultrasonography and OCT are the most useful tests for monitoring of tumor and retinal status after treatment.

– Absorption of subretinal or intraretinal fluid is the earliest evidence of response to treatment.

Pathological Findings

• Both CCH and DCH are composed of small to large, thin-walled vessels lined by flat endothelium and separated by thin intervascular connective tissue septa.

– Overlying RPE alterations include fibrous and osseous metaplasia.

– Overlying retina usually shows variable degrees of edema and photoreceptor degeneration.

DIFFERENTIAL DIAGNOSIS

• The diagnosis of CCH can be challenging. The main differential diagnosis includes:

– Amelanotic choroidal melanoma

– Choroidal metastasis

– Retinal detachment

– Central serous chorioretinopathy

– Posterior scleritis

– Age-related macular degeneration

TREATMENT

MEDICATION

There are no known medical treatments available for CCH or DCH.

ADDITIONAL TREATMENT

General Measures

• CCH and DCHs that affect or threaten central vision should be treated before irreversible RPE or retinal damage develops.

• Long delay between onset of symptoms and treatment is associated with a worse visual prognosis.

• In advanced cases with long-standing extensive serous retinal detachment, treatment may prevent development of neovascular glaucoma.

• Observation is the recommended management for asymptomatic CCH or DCH.

– In a large series from Oncology Service at Wills Eye Institute, 43% of patients were initially observed without treatment.

• The endpoint of treatment should be resolution of intra- or subretinal fluid and not complete tumor regression.

Additional Therapies

• Photodynamic therapy (PDT) with verteporfin is the treatment of choice for CCH and has been used successfully for treatment of DCH (2)[B], (3).

– Depending on the size of the tumor, one or more spots are necessary to adequately cover the tumor.

– Successful treatment with PDT leads to absorption of subretinal or intraretinal fluid and variable degrees of tumor regression within the first 3 months after treatment.

– Can be repeated if there is recurrence of serous RD or macular edema

– The most common complication of PDT is choroidal atrophy in the area of treatment.

The risk of choroidal atrophy can be reduced by using a single spot, non-overlapping spots, lower laser power and by avoiding treatment of surrounding normal choroid.

• Low-dose (20 Gy in 10 fractions) or standard dose (40 Gy in 20 fractions) external beam radiotherapy (EBRT) is the most commonly used method for management of DCH and can be used for treatment of CCH when other treatment methods are not available or are not possible due to hazy media or bullous retinal detachment.

• Plaque radiotherapy (20–40 Gy) has been used successfully for management of CCH.

– Due to success and excellent safety profile of PDT, currently plaque radiotherapy is reserved for tumors that have failed or are not good candidates for PDT (hazy media, bullous RD) (4).

• Laser photocoagulation and transpupillary thermotherapy are more destructive than PDT and their use is limited to treatment of extrafoveal CCHs when PDT is not available or possible.

– Laser photocoagulation although initially successful in resolution of subretinal fluid, is associated with high rates of recurrent subretinal fluid.

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

Patient Monitoring

All patients with untreated or treated CCH or DCH need to be monitored regularly for development of new or recurrent subretinal fluid.

PATIENT EDUCATION

• Patients should report any new symptoms such as blurred vision, light flashes, or visual field defect.

– Amsler grid can be useful for self-monitoring of the central vision.

PROGNOSIS

• Long delay between onset of symptoms (caused by subfoveal fluid or cystoid macular edema) and treatment, is associated with a worse final visual outcome.

• Subfoveal CCHs lead to overlying RPE and photoreceptor damage at the fovea and are associated with poor long-term visual prognosis.

COMPLICATIONS

Neovascular glaucoma is the end result of long-standing extensive serous RD in eyes with CCH or DCH and may require enucleation in some cases.

Pregnancy Considerations

There are several reports of women with CCH presenting with serous RD and decreased vision during the second or third trimesters of pregnancy. Spontaneous resolution of serous RD has been noted in some of these patients following delivery.

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