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Woman presents with slowly progressive unilateral vision loss
Fundus examination of the right eye revealed star-shaped macular folds with apparent elevation of the macula.
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A 30-year-old woman presented urgently to the New England Eye Center with several months of progressive vision loss, swelling and intermittent pain in the right eye.
Six years earlier, she had noticed mild blurred vision in the right eye and presented to an outside optometrist for evaluation. Her examination revealed a star-like pattern of retinal folds in the right macula that was attributed to an epiretinal membrane (ERM). She was diagnosed with a macular pucker and followed twice annually without significant progression over the first 3 years, and then there was a 2-year gap in follow-up until she presented to the clinic again with slowly progressive vision loss in the right eye. Otherwise, her ocular history was significant for a hyperopic refractive error in each eye. Her medical history and family history were unremarkable. Her prescribed medications included oral contraceptive pills. She had no known drug allergies. She denied the use of alcohol, tobacco or recreational drugs.
Examination
Upon examination, the patient’s best corrected visual acuity was 20/200+1 in the right eye and 20/20 in the left eye. Her pupils were symmetric, and she had no afferent pupillary defect. IOPs were within normal limits in each eye. Her motility was grossly full. She identified 9 of 12 Ishihara color plates in the right eye and 12 of 12 Ishihara color plates in the left eye.
Source: Sarah Thornton, MD, Laurel Vuong, MD, and Andre Witkin, MD
On external examination, there was 4 mm of right-sided proptosis measured with Hertel’s exophthalmometry. On slit lamp examination, the anterior segment was unremarkable in each eye with no conjunctival injection or chemosis. Fundus examination of the right eye revealed star-shaped macular folds with apparent elevation of the macula. There was also mild nasal fullness to the right optic nerve (Figure 1). Fundus examination of the left eye was unremarkable.
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Progressive vision loss
Macular folds are associated with relatively few conditions and therefore provide helpful diagnostic information when present. A frequent etiology for retinal folds is epiretinal membrane-related traction. Epiretinal membranes are present in about 9.1% of the population and have the potential to cause blurred or distorted vision. Idiopathic ERM is generally associated with aging, while secondary ERM can be seen after trauma, surgery, uveitis, diabetic retinopathy or retinal vascular occlusion. Other conditions that cause macular striae include retrobulbar masses, which create folds by exerting posterior pressure on the globe. Striae can also be seen with hypotony, posterior scleritis and papilledema.
As in our patient, the presence of macular striae in the setting of unilateral proptosis is highly suggestive of a retrobulbar mass. Signs of a space-occupying lesion in the orbit include proptosis and pain with eye movements. When the optic nerve and vascular structures are involved, reduced visual acuity or pupillary abnormalities may be observed. Diplopia or lagophthalmos may also occur due to mass effect on extraocular muscles.
The differential diagnosis for a space-occupying lesion in the orbit is broad and includes infectious, inflammatory, vascular and neoplastic etiologies. Infectious and inflammatory entities, such as orbital cellulitis or orbital pseudotumor, typically present more acutely with painful proptosis. Vascular lesions, such as orbital varix or cavernous hemangioma, may have a more chronic presentation. Benign orbital masses to consider in this demographic include meningiomas or schwannomas. Malignant neoplasms, including metastatic disease or lymphoma, are seen more frequently in older patients.
When an orbital mass is suspected, imaging is helpful to confirm the diagnosis. In the office, ultrasound imaging can reveal the presence of an orbital mass and provide useful information about its internal structure. Ultrasonography is a noninvasive, quick and inexpensive screening tool that avoids the use of radiation, but it may not reveal extraorbital extension of a mass. Additional imaging may be necessary in the workup such as CT or MRI of the brain and orbits.
Workup and management
The patient underwent additional in-office testing including OCT of each eye, which showed a convex contour and foveal outer retinal changes in the right eye (Figure 2a) and normal retinal anatomy in the left eye (Figure 2b). She was also sent for Humphrey visual field testing of each eye, which revealed an enlarged blind spot in the right eye and a normal visual field in the left eye (Figures 3a and 3b).
Given her clinical history and examination findings, she was sent for orbital MRI, which revealed an intraconal encapsulated mass in the right orbit with associated proptosis and medial deviation of the right optic nerve (Figures 4 and 5). The appearance was most suggestive of an orbital cavernous hemangioma.
The patient was sent to the oculoplastics service at Tufts Medical Center for surgical consultation. The decision was made to proceed with right lateral orbitotomy with bone flap and removal of the right orbital mass (Figure 6). Pathology of the excised lesion confirmed a diagnosis of cavernous hemangioma.
Discussion
Cavernous hemangiomas are classified as benign vascular malformations. These lesions typically present in the fourth or fifth decade and are more commonly seen in females. A common presentation of orbital cavernous hemangioma is slowly progressive unilateral proptosis with variable visual acuity loss. Proptosis is seen in about 70% of cases and generally results in downward displacement of the globe. Other signs at presentation include macular folds and optic nerve changes.
On CT or MRI, orbital cavernous hemangiomas typically appear as well-defined, round, intraconal lesions that enhance heterogeneously after contrast administration. As lesions grow, they will distort surrounding structures due to mass effect rather than invade or encase structures. MRI may be more helpful to delineate the internal structure of the lesion to arrive at a diagnosis.
Cavernous hemangiomas are considered benign and may be observed without treatment until they cause visual compromise or damage to adjacent structures. At that point, surgical excision is the treatment of choice. Depending on the location of the mass in the orbit, the chosen surgical approach may be via lateral orbitotomy, anterior orbitotomy or transconjunctival approach. Postoperatively, the majority of patients experience improvement in visual acuity, as well as resolution of proptosis and ophthalmoplegia if present. Potential complications of this surgery include loss of vision, motility limitation and ptosis. When vision loss occurs, it is usually from damage to the optic nerve blood supply, and this risk is increased with nasal or orbital apex masses.
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- For more information:
- Sarah Thornton, MD, Laurel Vuong, MD, and Andre Witkin, MD, can be reached at New England Eye Center, Tufts University School of Medicine. 800 Washington Street, Box 450, Boston, MA 02111; website: www.neec.com.
- Edited by Adam T. Chin, MD, and Omar Dajani, MD. They can be reached at the New England Eye Center, Tufts University School of Medicine, 800 Washington St., Box 450, Boston, MA 02111; website: www.neec.com.