BASICS

DESCRIPTION

Rare, congenital retinal vascular hamartoma

EPIDEMIOLOGY

Incidence

Very rare, and cannot be accurately specified as many patients are asymptomatic and do not seek ophthalmic care.

Prevalence

Very rare

RISK FACTORS

Family history

Genetics

• Sporadic and autosomal dominant forms are recognized.

• Neuro-oculo-cutaneous phacomatosis:

– Autosomal dominant with high penetrance and variable expressivity

– Also referred to as:

– Familial cavernous malformations of the central nervous systems (CNS) and retina

– Cavernoma multiplex

– Multiple cavernous hemangiomas more likely in familial cases

– Familial cerebral cavernous malformations (CCM) have been mapped to three loci: 7q21-q22 (CCM1), 7p15-p13 (CCM2), and 3q25.2-q27 (CCM3).

GENERAL PREVENTION

None

ETIOLOGY

This is a genetic condition.

COMMONLY ASSOCIATED CONDITIONS

• Cavernous hemangiomas of the CNS

• Cutaneous vascular hamartomas

DIAGNOSIS

HISTORY

• Decreased visual acuity and floaters; however, patients are frequently asymptomatic

• Seizures, headaches, intracranial hemorrhage, and progressive focal neurologic deficits can be observed in cases involving the CNS (as part of the above neuro-oculo-cutaneous phacomatosis).

PHYSICAL EXAM

• Grape-like clusters of saccular dilatations filled with dark (venous) blood arising from the inner retina or optic nerve surface

• Overlying gliosis/fibrosis

• Associated epiretinal membranes

• Enlarged feeding or draining vessels characteristically absent

• Typically unilateral

DIAGNOSTIC TESTS & INTERPRETATION

Imaging

• Fluorescein angiography is very helpful in confirming the diagnosis

– Characteristically patients have delayed filling

– Plasma/fluorescein-erythrocyte level may be seen within saccules

– Characteristic absence of leakage may be observed

• Neuroimaging (MRI brain is the preferred imaging modality)

Pathological Findings

Sessile tumor composed of multiple, dilated, thin collagenous walled vascular spaces lined by nonfenestrated endothelium with surface gliosis

DIFFERENTIAL DIAGNOSIS

• Retinal telangiectasis (e.g., coats disease)

• Retinal hemangioblastoma

• Racemose angioma

TREATMENT

MEDICATION

• Normally no treatment required

• Laser photocoagulation and/or vitrectomy used in select cases of vitreous hemorrhage

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

• Ophthalmologist

• Neurological/neurosurgical consultation

• Dermatologic consultation

PATIENT EDUCATION

• Screening required for systemic and familial involvement.

– Detailed family history, ophthalmologic, neurologic (including neuroimaging studies), and dermatologic examinations

– First-degree relatives should be screened if diagnosis of neuro-oculo-cutaneous phacomatosis suggestive by patient examination or family history

PROGNOSIS

• Visual loss is uncommon. Most patients are asymptomatic

• Nonprogressive; may undergo spontaneous thrombosis

• No treatment is required

COMPLICATIONS

• Vitreous hemorrhage

• Decreased visual acuity secondary to macular location

• Epiretinal membrane formation

• Intracranial hemorrhage secondary to cavernous hemangioma of the CNS

ADDITIONAL READING

• Gass JDM. Cavernous hemangioma of the retina: A neuro-oculo-cutaneous syndrome. Am J Ophthalmol 1971;71:799–814.

• Goldberg RE, Pheasant TR, Shields JA. Cavernous hemangioma of the retina: A four-generation pedigree with neurocutaneous manifestations and an example of bilateral retinal involvement. Arch Ophthalmol 1979;97:2321–2324.

• Dobyns WB, Michels VV, Groover RV, et al. Familial cavernous malformations of the central nervous system and retina. Ann Neurol 1987;21:578–583.

• Pancurak J, Goldberg MF, Frenkel M, et al. Cavernous hemangioma of the retina: Genetic and central nervous system involvement. Retina 1985;5:215–220.

• Sarraf D, Payne AM, Kitchen ND, et al. Familial cavernous hemangioma: An expanding ocular spectrum. Arch Ophthalmol 2000;118:969–973.

• Singh AD, Rundle PA, Rennie I. Retinal vascular tumors. Ophthalmol Clin N Am 2005;18:167–176.

• Kitzmann AS, Pulido JS, Ferber MJ, et al. A splice mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma. Ophthalmic Genet 2006;27:157–159.

CODES

ICD9

• 228.03 Hemangioma of retina

• 757.32 Vascular hamartomas

• 759.6 Other congenital hamartoses, not elsewhere classified

CLINICAL PEARLS

• The “grape-like” cluster seen with fluorescein angiography with classic fluorescein and erythrocyte levels is typical of this disease.

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