Case Report

Fundus Exam Reveals Rare Tumor in Teen

A “routine” exam of an asymptomatic patient uncovers a rare, benign retinal condition.

Andrew S. Gurwood, O.D. David Styn, O.D. Andres Lambaria, O.D.
Philadelphia, Pa

Sidebars:
Characteristics of the Phacomatoses
Management of Cavernous Retinal Hemangioma

A 13-year-old white female presented for a “routine” eye examination. She had no ocular complaints and reported no pertinent ocular or systemic history. She reported no allergies and denied taking any medications.

Diagnostic Data
Best-corrected visual acuity was 20/20 O.U. at distance and near. External examination was normal, and there was no evidence of afferent pupillary defect. Refraction revealed clinical emmetropia O.U. Anterior segment evaluation was normal, and IOPs were 14mm Hg O.U. The dilated fundus examination uncovered a large group of dilated blood vessels in the right eye. The appearance resembled a cluster of grapes. Dilated fundus exam of the left eye was normal.

Diagnosis
The appearance of the lesion was consistent with cavernous hemangioma of the retina.

Treatment and Follow-up
We referred the patient to a vitreoretinal specialist, who confirmed the diagnosis. The patient also underwent magnetic resonance imaging (MRI) to rule out additional lesions.

There was no need for treatment or limitation of activity. We educated the patient on the findings and instructed her to return every 6 months so we could monitor her for any progression and visual disturbances.

Discussion
Cavernous hemangioma of the retina was first recognized in 1971 as a distinct retinal vascular hamartoma (a benign, disorganized overgrowth of tissue).1,2 Cavernous hemangioma is the most common benign orbital tumor in adults, and often presents as a retrobulbar tumor. The slowly progressive tumor resembles a cluster of grapes, and is composed of clusters of thin-walled, saccular aneurysms. A white or gray fibroglial membrane may encapsulate them.3-7

Cavernous hemangiomas usually appear between ages 10 and 40, and are typically unilateral. They’re more prevalent in females than males by a 3-2 ratio.5 Retinal lesions are typically 1-2 disc diameters in size, isolated and widely distributed across the fundus. They can appear anywhere, but are known to follow the course of veins.5 Pregnancy can accelerate their growth.

Histopathological study of cavernous hemangioma indicates that its fibroglial membrane attaches to the internal limiting membrane, and connects with the inner retinal surface. The presence of glial protein, both in the gray membrane and the inner retina, is evidence that the membrane is of glial origin.2,3,5

Retinal cavernous hemangiomas are classified as part of the phacomatoses, a group of lesions characterized by the presence of hamar- tomas in the skin, eye, central nervous system and viscera.3-6 It is often found on the eyelid as an isolated, light pink, well-circumscribed lesion. Although the appearance of cavernous hemangioma is classic, you must be able to distinguish it from and rule out the other phacomatoses (see “Characteristics of the Phacomatoses,” right).


The right fundus revealed large, dilated blood vessels that resembled a cluster of grapes.

Various degrees of retinal telangiectasias, as seen in Coat’s disease and Leber’s miliary aneurysms, are also induced in the phacomatoses. The principle difference between retinal telangiectasias and cavernous hemangiomas are that the aneurysms are single, placed along vessels and are exudative. Cavernous hemangiomas occur in clusters, are isolated from vessels and are not exudative.6,8

The pathognomonic characteristic of cavernous hemangioma is its appearance, since many patients are asymptomatic. It can cause painless, progressive unilateral axial proptosis over 3-5 years.

Visual acuity is affected in cases in which the macula is involved or in cases that exhibit spontaneous intravitreal bleeding.9 A visual field defect may arise if the tumor is near the optic nerve head, resulting in an enlarged blind spot.2-5 Other clinical findings may include strabismus, chorioretinal striae/folds, increased IOP and/or optic atrophy.

Diagnosing cavernous hemangioma requires ruling out central nervous system involvement. Refer the patient for computed tomography and MRI. Most cases of cavernous hemangiomas do not require treatment, but asymptomatic patients should be followed every 6-12 months.7,10,11

Excision of the hemangioma via the vitrectomy approach is indicated when vitreous separation or tractional vitreous hemorrhage occurs; when diplopia, proptosis and/or optic nerve compression is present; or if visual function is compromised.9 Ultrasonography can help you diagnose vitreous separation and the encapsulated tumor.12,13

Other possible treatments may include cryotherapy in occasional cases.9 Photocoagulation may be indicated in the rare circumstances that the vascular cluster fails to remain stable and bleeds. Removal may also be indicated if there is compromised visual function.

Because cavernous hemangioma tends to be familial, family members should be examined, too.9 Family members who show signs of neurological involvement such as seizures, palsies or paresis, should be referred for CT scan and MRI. Dilated fundus examinations should be performed biannually on all family members to rule out genetic penetration.3,14

Although this patient simply needed regular monitoring, her condition reminds us that even the so-called “routine” exam is not always routine. It also serves as a reminder that a dilated fundus exam, even on asymptomatic patients, is necessary to diagnose any underlying problems that may eventually affect the patient’s vision or have systemic ramifications. And, with conditions such as cavernous hemangioma of the retina, an entire family may be affected. Prompt diagnosis and referral for appropriate testing helps reinforce our role as primary eye care providers. u


Dr. Gurwood is associate professor at The Eye Institute of the Pennsylvania College of Optometry. Drs. Styn and Lambaria are in private practice in the Buffalo, N.Y., area and Flint, Mich., respectively.

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Characteristics of the Phacomatoses
Condition Description
 
Cavernous hemangioma
  • Rare, benign vascular lesion appearing as of the retina “grape-like” clusters.
  • Typically unilateral.
  • 1-2 disc diameters in size.
von Hippel-Lindau syndrome
  • Autosomal dominant disease.
  • Characterized by tumors of the CNS, retina, kidney, adrenal glands and pancreas.
  • Most frequent ocular manifestation is retinal angiomatosis, which present as round, red tumors of the retina with dilated blood vessels.
  • Most frequent sign is retinal capillary hemangioma.6,15-20
Sturge-Weber syndrome
  • Characterized by malformations of blood vessels, skin, eyes and leptomeninges.
  • Lesions occur sporadically and do not have a familial pattern.
  • Ocular involvement in about 50% of cases.
  • More than half the patients may present with secondary glaucoma.
  • Hemangiomas of the conjunctiva, episclera, choroid and retina, along with retinal detach- ments, have been reported.6,16,17,21
Tuberous sclerosis
  • Classic triad of retardation, seizures and (Bourneville’s disease) hamartoma (reddish-brown rash in a “butterfly” pattern over the face).22
  • Demonstrates CNS involvement.6,22
  • Ocular manifestations include astrocytic hamartomas of the retina and optic nerve, and hypopigmented spots on the iris.6,17,22
Wyburn-Mason syndrome
  • Rare oculocephalic syndrome.
  • Retinal arteriovenous anastomoses that can affect optic nerve, chiasm and optic tract, along with arteriovenous malformations in the midbrain.6,16,23
  • Retinal lesions are stable, infrequently showing exudation or exudative retinal detachment.
  • MRI indicated to confirm the diagnosis and rule out additional lesions.
Neurofibromatosis
  • Occurs in approximately 1 in 3,000 live births.24
  • Consists of astrocytic hamartomas of the retina (neurofibromas), skin lesions (café-au-lait spots) and neural vascular tumors.3,6,23
NF-1
  • Results from genetic mutation.
  • Characterized by more than six café-au-lait spots and more than one cutaneous neurofibroma.
NF-2
  • Very rare; occurs in 1 in 50,000 live births.24
  • CNS tumors, bilateral and acoustic neuromas.
 


Management of Cavernous Retinal Hemangioma
Description of Hemangioma Management
Benign, stable No treatment. Dilated fundus exam every 6-12 months.
With vitreous separation or tractional vitreous hemorrhage Excision, vitrectomy.
With signs of neurological involvement CT and MRI to rule out CNS involvement.
Bleeding of vascular cluster and compromised visual function Photocoagulation.


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October 15, 2000
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