CAVERNOUS HEMANGIOMA

Signs and Symptoms

Cavernous hemangioma of the retina (CHR) and the optic disc are typically considered to be uncommon lesions. Their precise frequency in the general population is unknown, but both genders and all ethnic groups are susceptible.1 They represent asymptomatic, congenital malformations of the retinal blood vasculature that are typically non-progressive and most often unilateral.2 Since CHRs produce no dysfunction unless they occur in the macula (causing decreased acuity) or hemorrhage (with patients reporting the symptom of floating spots), they often remain undiscovered until they are observed during a routine dilated fundus examination. However, CHR rarely is a source of exudation or intraocular hemorrhage.1-5 When they do produce spontaneous vitreous bleeding, without intervention the episodes are often recurrent and significant.1

CHRs are easily recognized by their characteristic saccular “grape-like” appearance, along with an associated grayish-white epiretinal membrane in some cases.1-5 Optical coherence tomography may provide additional information and help in the differentiation of these lesions, which show lobulated, hyper-reflective masses in the inner retina that correspond to the aneurysms.6,7

Most individuals with CHR have a single lesion (consisting of multiple saccular components) in one eye with no other ocular or systemic anomalies; however, on occasion the disturbance can be found demonstrating multiple lesions in one retina along with abnormal vascular lesions of the skin and central nervous system.1 While CHR are generally considered to be static and not capable of growth, the literature documents several cases of cavernous hemangioma of the optic nerve that demonstrate an increase in size.8 There is even a documented case of cavernous hemangioma interfering with oculomotor nerve function, causing ophthalmoparesis, ptosis and visual impairment via a compressive etiology.9

Cavernous hemangioma of the retina, optic nerve or choroid may serve as the ocular component of neuro-oculo-cutaneous phacomatosis syndrome, sometimes referred to as cavernoma multiplex.10,11 Choroidal hemangiomas are regularly associated with Sturge-Weber syndrome.12

Fluorescein angiographic features of CHR were described in 1975 by Lewis and associates.13 These include: (1) a normal arterial and venous supply, (2) extraordinarily slowed venous drainage, (3) a lack of arteriovenous shunting and no disturbance in vascular permeability, (4) no secondary retinal exudation and (5) the unique formation of isolated clusters of vascular globules, with plasma/erythrocyte sedimentation surrounding the main body of the malformation.13

Pathophysiology

Cavernous hemangioma of the retina is considered a hamartoma. The word hamartoma originates from the Greek hamartia, meaning “a tragic flaw.” In medical terms, it refers to a benign overgrowth of mature cells derived from tissues normally present in the locality of the mass, but of improper proportion and distribution. CHR may be sporadic in the population, or may display an autosomal dominant inheritance pattern in some families.1,3

The lesions themselves consist of clustered, large, thin-walled, intraretinal vessels (lined with normal, healthy vascular endothelium) that have taken the shape of round saccules.1,2,4 As the tumor evolves, it displaces and replaces the sensory retina in that zone. There is no recognized malignant potential.1

Management

Since CHRs do not commonly progress or leak, these lesions rarely require therapeutic intervention.1-5 Moreover, they do not necessitate any restriction of activity or change in lifestyle.1 However, because of their vascular nature and potential to serve as markers for additional lesions in alternate locations, there is always some risk of additional hemangiomas being present, carrying a more ominous prognosis.9,10 While rare, the possibility of intracranial hemorrhage must be viewed as a life-threatening sequela.10 For these reasons, individuals with CHR should be referred for neurological consultation and possibly neuroimaging.1,3,14 Advice should also be offered to family members so that they can be properly evaluated as well.3

When CHR interferes with functional vision due to impingement, hemorrhage or exudation, shrinkage and/or closure should be attempted. Verteporfin-based photodynamic therapy (PDT) has been demonstrated to exhibit some success in achieving closure of large retinal capillary hemangiomas.15,16 In clinical studies examining treatment options, CHR either shrunk in size or experienced complete closure with resultant mitigation of excessive exudation and hemorrhage following PDT.15,16 In most instances, PDT successfully improved the visual acuity, but tractional macular puckering has been noted.16 Tractional macular pucker carries with it the risk of macular hole formation. Patients with this presentation can be instructed to monitor their status using the home Amsler grid. Other modalities that have been used successfully include focal laser photocoagulation and systemic infliximab (Remicade).17,18

Clinical Pearls

Cavernous hemangiomas of the retina are considered to be stable intraretinal lesions. However, the same tumor occurring on the optic disc has the potential for growth—causing vitreous hemorrhage—and therefore should be closely monitored.

The presence of either retinal cavernous hemangioma or choroidal hemangioma should alert the clinician to search for features suggestive of systemic and familial involvement.

The principal differential diagnoses include exudative retinal telangiectasias, Coats’ disease, the vascular von Hippel-Lindau tumor and the arteriovenous malformation racemose hemangioma (Wyburn-Mason syndrome).

1. Augsberger JJ, Bornfeld N, Correa ZMS. Hemangiomas of the retina. In: Yanoff M, Duker JS. Ophthalmology 2nd ed. Philadelphia, Mosby 2004:1089-92.

2. Knutsson KA, De Benedetto U, Querques G, et al. Primitive retinal vascular abnormalities: tumors and telangiectasias. Ophthalmologica. 2012;228(2):67-77.

3. Chen L, Huang L, Zhang G, Gordon L. Cavernous hemangioma of the retina. Can J Ophthalmol. 2008;43(6):718-20.

4. Turell ME, Singh AD. Vascular tumors of the retina and choroid: diagnosis and treatment. Middle East Afr J Ophthalmol. 2010;17(3):191-200.

5. Singh A. Intraocular vascular tumors. Saudi J Ophthalmol. 2007; 21(1):25-34.

6. Heimann H, Jmor F, Damato B. Imaging of retinal and choroidal vascular tumours. Eye (Lond). 2013;27(2):208-16.

7. Andrade RE, Farah ME, Costa RA, Belfort R Jr. Optical coherence tomography findings in macular cavernous haemangioma. Acta Ophthalmol Scand. 2005;83(2):267-9.

8. Kushner MS, Jampol LM, Haller JA. Cavernous hemangioma of the optic nerve. Retina. 1994;14(4):359-61.

9. Mirzayan MJ, Capelle HH, Stan AC et al. Cavernous hemangioma of the cavernous sinus, skin, and retina: hemodynamic changes after treatment: case report. Neurosurgery. 2007;60(5): E952; discussion E952.

10. Sarraf D, Payne AM, Kitchen ND, et al. Familial cavernous hemangioma: An expanding ocular spectrum. Arch Ophthalmol. 2000;118(7):969-73.

11. Mosca L, Pileggi S, Avemaria F, et al. De novo MGC4607 gene heterozygous missense variants in a child with multiple cerebral cavernous malformations. J Mol Neurosci. 2012;47(3):475-80.

12. Ray R, Foroozan R. Uveo-meningeal syndromes. Int Ophthalmol Clin. 2007;47(4):131-49.

13. Lewis RA, Cohen MH, Wise GN. Cavernous haemangioma of the retina and optic disc. A report of three cases and a review of the literature. Br J Ophthalmol. 1975;59(8):422-34.

14. Patikulsila D, Visaetsilpanonta S, Sinclair SH, Shields JA. Cavernous hemangioma of the optic disk. Retina. 2007;27(3):391-2.

15. Javellana JA, Drouilhet JH, Kokame GT et al. Retinal capillary angioma in familial exudative vitreoretinopathy treated with photodynamic therapy. Am J Ophthalmol. 2004;137(4):780-2.

16. Aaberg TM, Aaberg TM, Martin DF et al. Three cases of large retinal capillary hemangiomas treated with verteporfin and photodynamic therapy. Arch Ophthalmol. 2005;123(3):328-32

17. Gass JD. Cavernous hemangioma of the retina. A neuro-oculo-cutaneous syndrome. Am J Ophthalmol. 1971;71(4):799-814.

18. Japiassú RM, Moura Brasil OF, de Souza EC. Regression of Macular Cavernous Hemangioma with Systemic Infliximab. Ophthalmic Surg Lasers Imaging. 2011;42(6):E1-E3.