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Girl referred for an unusual optic disc lesion
There was a peripapillary mass in the left eye with associated leakage and hard exudate.
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 Jeffrey Chang |  Vivek Chaturvedi | |
A 12-year-old girl was referred to the retina service at the New England Eye Center for evaluation and management of an unusual optic disc lesion in her left eye. The lesion was found during a routine examination at an outside office. The patient was asymptomatic, denying any visual complaints in either eye. Medical history was remarkable for mild asthma. Ocular and family histories were negative.
Examination
On examination, distance visual acuity without correction was 20/20 in the right eye and 20/25 in the left eye with no pinhole improvement. IOP by applanation tonometry was 20 mm Hg in both eyes. Pupils were equally reactive without an afferent pupillary defect. Slit lamp examination of the anterior segment was unremarkable.
Dilated fundus examination of the left eye revealed an elevated, reddish lesion on the superior optic disc with feeder vessels (Figure 1). Marked peripapillary leakage was present. Hard exudate extended inferonasal from the optic disc and into the macula, just impinging on the fovea. The right fundus was normal.
Fluorescein angiography in the left eye showed fine capillary filling within the lesion (Figure 2a) with progressive hyperfluorescence and late leakage from the lesion (Figure 2b). Indocyanine green angiography in the left eye (Figure 3) again revealed fine capillary filling. The lesion became hyperfluorescent in later frames only. No early hyperfluorescence, as would be expected from a choroidal lesion, was detected.
 Elevated lesion on superior optic disc with accompanying peripapillary leakage and hard exudate. |
 Fluorescein angiography showing fine capillary filling within lesion. |
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 Later fluorescein angiography frames with progressive hyperfluorescence and leakage. |
 Fine capillary filling without early choroidal hyperfluorescence by indocyanine green angiography. Images: Chaturvedi V, Chang J |
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What is your diagnosis?
Peripapillary mass
The clinical appearance of a peripapillary mass with associated leakage and exudation appearing to originate from the retinal circulation led to a diagnosis of juxtapapillary retinal capillary hemangioma.
Differential diagnosis
The differential diagnosis for this peripapillary mass includes tumors such as retinal capillary hemangioma, choroidal hemangioma and amelanotic choroidal melanoma. However, exudation would not be expected from a choroidal hemangioma or melanoma. Given the peripapillary location, disc edema and papillitis, juxtapapillary choroiditis and choroidal neovascular membrane are also included in the differential. Similar exudation can be seen with Coats’ disease and retinal macroaneurysm, although such conditions would not be associated with a mass.
Discussion
Retinal capillary hemangiomas are benign vascular tumors arising from the blood vessels of the retina. These tumors are hamartomatous malformations that are not usually present congenitally. Retinal capillary hemangiomas are uncommon with an unknown frequency in the general population, and no gender or racial predilection exists for these lesions.
Retinal capillary hemangiomas can occur in isolated cases or in association with von Hippel-Lindau (VHL) syndrome. Isolated retinal capillary hemangiomas are referred to as von Hippel’s disease or angiomatosis retinae. VHL syndrome is a condition with multiple organ system involvement. This syndrome has an autosomal dominant inheritance pattern with a known mutation in the VHL gene on chromosome 3p25-26. Retinal capillary hemangiomas are found in 20% to 68% of patients with VHL syndrome. Other ocular manifestations of VHL syndrome include atypical retinal vascular hamartomas and twin retinal blood vessels. Other systemic manifestations include central nervous system hemangiomas, renal cysts and carcinoma, pheochromocytomas, pancreatic cysts and islet cell tumors, and epididymal, inner ear and female broad ligament involvement.
Clinically, retinal capillary hemangiomas appear as circumscribed, round retinal lesions that are often orange-red in color. Prominent feeder vessels are usually present. Secondary effects such as intraretinal and subretinal exudation can occur in the vicinity of the lesion or remotely, such as a macular star pattern. These tumors can be unilateral or bilateral, and also single or multifocal.
Retinal capillary hemangiomas are classified by their location within the retina as either peripheral or juxtapapillary. The majority of retinal capillary hemangiomas are located in the peripheral retina. Peripheral tumors are supplied by a pair of dilated and tortuous retinal vessels. Juxtapapillary retinal capillary hemangiomas are usually located along the temporal optic disc and vary in appearance by morphology.
 Post-treatment resolution of edema and improvement of exudation. Fibrotic scar limiting vision. |
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 Post-treatment fibrosis and resolution of fluid by optical coherence tomography. |
The diagnosis of retinal capillary hemangiomas is aided by ancillary testing. Fluorescein angiography shows fine capillary filling of the lesion with a dilated feeder arteriole in the arterial phase and a draining vein in the venous phase. The hemangioma displays progressive hyperfluorescence, often with late leakage. Indocyanine green angiography is helpful to differentiate choroidal lesions from retinal capillary hemangiomas. B-scan ultrasonography shows a well-demarcated retinal lesion with high internal reflectivity and no choroidal effects.
Treatment
Many modalities have been used to treat retinal capillary hemangiomas. Observation can be employed if the lesion is small, not associated with exudation or subretinal fluid, and not visually threatening. The juxtapapillary lesion should only be treated if the vision is reduced or if the lesion progresses because treatment can have adverse effects on the adjacent optic nerve and major retinal vessels. Laser photocoagulation, cryotherapy and the various radiotherapies are viable treatment options. The use of photodynamic therapy has been described in few small case series with favorable results.
In summary, this was a 12-year-old girl with a leaking retinal capillary hemangioma in the left eye. Systemic workup for VHL syndrome, including MRI of the brain, CT of the abdomen/pelvis and urinary catecholamines, was negative. Treatment was not offered until the patient became symptomatic with vision spontaneously dropping to 20/40 in the left eye. At that time, she was treated with external beam radiation therapy and subsequently laser photocoagulation. At last visit, the macular edema had resolved with improvement of the hard exudates (Figure 4). However, a fibrotic scar developed in the macula, limiting her vision in the left eye to 20/100.
References:
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- Mark E. Patron, MD, and Jay S. Duker, MD, can be reached at New England Eye Center, Tufts University School of Medicine, 750 Washington St., Box 450, Boston, MA 02111; 617-636-4219; fax: 617-636-4866; Web site: www.neec.com.
- Edited by Jeffrey Chang, MD, and Vivek Chaturvedi, MD. Drs. Chang and Chaturvedi can be reached at New England Eye Center, Tufts University School of Medicine, 750 Washington St., Box 450, Boston, MA 02111; 617-636-4219; fax: 617-636-4866; Web site: www.neec.com.
