Older man presents with unilateral choroidal lesion
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A 74-year-old white man presented as a referral to Lahey Hospital department of ophthalmology for a choroidal lesion of his left eye. He reported a progressive decline in his left eye vision for a year accompanied by intermittent floaters.
Previously, he was evaluated by an outside provider who detected a choroidal lesion on dilated examination that was diagnosed as a presumed choroidal osteoma. Further imaging revealed possible choroidal neovascularization associated with the choroidal lesion, so he underwent treatment with two bevacizumab injections with his outside provider. A few months after this treatment and before presentation to our clinic, the patient was admitted to the hospital for acute kidney injury and hypercalcemia. Imaging demonstrated mediastinal lymphadenopathy and scattered lung nodules. The pulmonary lesions were biopsied, with pathology revealing non-necrotizing granulomas, consistent with a diagnosis of sarcoidosis. The patient was started on prednisone 40 mg daily. After this diagnosis, he was seen at Lahey ophthalmology department for a comprehensive exam and for a second opinion of this newly discovered choroidal lesion.
Source: Allison Resnik, MD, Sarkis H. Soukiasian, MD, and Jeffrey L. Marx, MD
The patient’s ocular history included dry eye disease and mild spectacle correction for myopia but notably no history of ocular inflammation. As mentioned above, he was diagnosed with a choroidal osteoma of his left eye a few months before his diagnosis of systemic sarcoidosis. His only surgical history included prostate biopsy for a diagnosis of benign prostatic hypertrophy. Medications included prednisone 40 mg daily, in which the patient reported nonadherence due to intolerable side effects. He had no family history of eye disease. Socially, he denied any drug or tobacco use and drank alcohol rarely.
Examination
Visual acuity was 20/20-2 in the right eye and 20/25-1 in the left eye with spectacle correction at distance. IOP was 8 mm Hg in the right eye and 10 mm Hg in the left eye measured via rebound tonometry. Pupils were 4 mm, round and reactive bilaterally without a relative afferent pupillary defect. Extraocular movements and confrontation visual fields were full bilaterally. Color vision measured by Ishihara plates was 8/8 in the right eye and 5/8 in the left eye.
Anterior segment exam by slit lamp was remarkable only for mild cataracts. There was vitreous syneresis noted inferiorly in both eyes without anterior vitreous cell. Dilated exam revealed diffusely scattered, faint, well-circumscribed 0.5 disc diameter (DD) yellow-white choroidal lesions in the right eye and a 4 DD amelanotic subretinal lesion along the superior arcade with pigmentary mottling in the left eye. The left optic nerve demonstrated mild optic nerve head swelling with slight hyperemia (Figure 1).
What is your diagnosis?
See answer below.
Choroidal lesion
The features of a large choroidal lesion with bilateral mid-peripheral lesions and unilateral optic disc swelling in a patient with a recent diagnosis of sarcoidosis are most consistent with a sarcoid choroidal granuloma.
Upon recognition of a unilateral choroidal lesion, it is important to rule out an infectious or neoplastic etiology. Infectious etiologies can be ruled out with blood work for tuberculosis or syphilis. Neoplastic lesions that can present similarly include amelanotic choroidal nevi, amelanotic melanoma, osteoma and choroidal metastasis. A thorough and detailed review of systems and history did not identify risk factors or exposures to raise suspicion for an infectious etiology.
Management
It is important to arrive at an accurate diagnosis for a choroidal lesion as the management of these infectious, malignant and inflammatory lesions is vastly different. Before presentation to our clinic, the patient had a comprehensive inpatient workup for hypercalcemia that revealed a biopsy-proven diagnosis of sarcoidosis. Before starting immunosuppressive therapy, he tested negative for tuberculosis and syphilis; thus, our suspicion for infectious etiology was low.
At the time of our examination, the patient was off systemic steroid therapy due to intolerable side effects. B-scan in the office demonstrated hyperreflectivity around the lesion with absence of shadowing posterior to the lesion (Figure 2). This imaging modality allowed us to discount a lesion that presents similarly, an osteoma, as this typically demonstrates a highly reflective mass with acoustic shadowing that resembles a “pseudo-optic nerve” appearance. Macula OCT demonstrated a small collection of subretinal fluid temporal to the optic nerve head (Figure 3). OCT through the lesion demonstrated subretinal hyperreflective infiltrates with associated shadowing in the choroid (Figure 4). OCT of the retinal nerve fiber layer (RNFL) revealed average RNFL thickness of 77 µm in the right eye and 121 µm in the left eye, with significant thickening of the superior quadrant in the left eye (176 µm) (Figure 5). Fluorescein angiography revealed hyperfluorescence of the choroidal lesions in the right eye with leakage of the peripheral choroidal lesions. Fluorescein angiography of the left eye revealed early blockage of the choroidal lesion with late staining along the lesion borders and inferior choroidal lesions.
Given the findings of fluorescein leakage on angiography with OCT imaging revealing peripapillary subretinal fluid with optic nerve head swelling of the left eye, we felt there was active inflammation not controlled off steroid therapy. Therefore, the patient was started on 60 mg oral prednisone daily and supplemented with a 40 mg sub-Tenon’s injection of Kenalog (triamcinolone acetate) of the left eye due to the patient’s concerns of systemic steroid-related toxicity. Additionally, an MRI was ordered.
Discussion
Sarcoidosis is a systemic inflammatory disease characterized by non-caseating granulomas that can affect any organ system, specifically the lungs, liver, skin, central nervous system and eyes. James and colleagues found the most common ocular manifestation of sarcoidosis is anterior uveitis, with only 25% presenting with posterior segment findings. Posterior segment involvement includes vitritis, retinal vasculitis, chorioretinitis or focal lesions such as granulomas of the retina, optic nerve or choroid. Choroidal granulomas can be unifocal or multifocal and vary dramatically in size, ranging from 1 DD to 10 DD. The prevalence of solely choroidal granulomas in those with a diagnosis of sarcoidosis, as seen in our patient, is rare at only 5%. Given the similar resemblance to infectious and neoplastic choroidal lesions, it is important to rule out other etiologies before making a diagnosis of sarcoid granuloma.
Sarcoid granulomas may have a minimal effect on visual acuity, with many patients being asymptomatic. Symptoms may include mild, unilateral blurred vision or paracentral scotomas, as was seen in our case. Studies have found that patients with posterior segment findings of sarcoidosis typically lack any anterior inflammation. Interestingly, those with solitary choroidal granuloma may have minimal vitreous inflammation, as in our case, although the impact of previous systemic oral steroids on our exam is not clear. Those with posterior involvement are at increased risk for developing choroidal neovascularization or cystoid macular edema. Thus, it is crucial to obtain imaging to closely monitor for this development.
To assist in accurately diagnosing ocular sarcoidosis, the International Workshop on Ocular Sarcoidosis created revised criteria in 2017. This includes systemic evidence of, but not limited to, bilateral hilar lymphadenopathy on chest X-ray or chest CT scan, negative tuberculin testing, elevated serum ACE and/or lysozyme, and biopsy-proven evidence of non-caseating granulomas. With regard to intraocular signs of ocular sarcoidosis, the patient must have bilateral involvement and evidence of one of the following: granulomatous uveitis (mutton-fat keratic precipitates or iris or trabecular meshwork nodules), vitreous snowballs/string of pearl opacities, multiple peripheral chorioretinal lesions, nodular and/or segmental periphlebitis, or optic disc or solitary choroidal nodules/granulomas. A definite diagnosis of ocular sarcoidosis can be made if the diagnosis is supported by biopsy with compatible evidence of uveitis. This was the case in our patient with biopsy-proven systemic diagnosis of sarcoidosis with intraocular evidence of bilateral and multifocal choroidal granulomas.
Diagnostic imaging to evaluate the granuloma can also assist in making an accurate diagnosis by ruling out other etiologies. On B-scan ultrasound, the choroidal mass typically demonstrates internal reflectivity without evidence of shadowing beneath the lesion, as seen in choroidal osteomas. Active lesions on OCT demonstrate homogeneous shadowing under the retina with or without compression of the surrounding choriocapillaris. We believe in our patient’s case, the OCT findings demonstrated a more consolidated, fibrotic lesion because he was previously on steroid therapy. The choroidal lesions on fluorescein angiography commonly present as early hypofluorescence with late hyperfluorescence. Fluorescein angiography can also show choroidal neovascularization or retinal vascular leakage in active inflammation.
Any diagnosis of ocular sarcoidosis with posterior involvement should also be assessed for the “great imitator” known as neurosarcoidosis. Gould and Kaufman found the incidence of central nervous system involvement increases from 2% to 37% if any fundoscopic abnormalities are present. Therefore, it is extremely important to assess for any neurological sequelae such as optic nerve head swelling, abnormal eye movements, pupillary abnormalities, visual hallucinations, peripheral neuropathy and/or encephalopathy. In our case, the patient had evidence of optic nerve head swelling, prompting MRI to assess for central nervous system involvement.
The goal of treatment in ocular sarcoidosis is to restore vision and prevent any sequelae from chronic inflammation. The mainstay of treatment typically includes systemic steroid therapy. Patients whose disease cannot be adequately controlled off high-dose steroid therapy may require transition to a systemic immunosuppressive agent such as methotrexate or a biologic agent such as a TNF-alpha inhibitor. Local use of sub-Tenon’s or intravitreal steroids is becoming more popular for those who are intolerant to oral steroids or for asymmetric involvement. Kumar and colleagues described a case of a patient with presumed sarcoidosis who presented with active anterior granulomatous uveitis with unilateral solitary choroidal granuloma and optic disc edema who received 40 mg sub-Tenon’s triamcinolone and had flattening of the granuloma within 3 weeks and complete resolution of optic disc edema within 6 weeks. Most patients respond within 4 months; however, it has been noted these patients have a high rate of recurrence. For our patient, the decision was made to provide supplemental sub-Tenon’s steroid therapy in addition to systemic therapy as the patient could not tolerate steroids due to side effects.
Clinical course continued
Within 1 week after starting systemic oral prednisone and administration of 40 mg sub-Tenon’s Kenalog injection, the patient’s vision improved subjectively with resolution of subretinal fluid and significant improvement of optic nerve head swelling on OCT. Over the course of 2 months, the patient was tapered to 20 mg of oral prednisone with resolution of optic nerve head swelling. Currently, the patient is being tapered off systemic prednisone therapy and has started oral methotrexate for long-term control of his systemic sarcoidosis.
- References:
- Desai UR, et al. Retina. 2001;doi:10.1097/00006982-200102000-00007.
- Gould HL, et al. Am J Ophthalmol. 1961;doi:10.1016/0002-9394(61)90148-9.
- Kumar V, et al. Oman J Ophthalmol. 2013;doi:10.4103/0974-620X.116660.
- Modi YS, et al. J Ophthalmic Inflamm Infect. 2013;doi:10.1186/1869-5760-3-58.
- Pasadhika S, et al. Clin Chest Med. 2015;doi:10.1016/j.ccm.2015.08.009.
- Standardization of Uveitis Nomenclature (SUN) Working Group. Am J Ophthalmol. 2021;doi:10.1016/j.ajo.2021.03.047.
- For more information:
- Allison Resnik, MD, Sarkis H. Soukiasian, MD, and Jeffrey L. Marx, MD, can be reached at New England Eye Center, Tufts University School of Medicine, 800 Washington St., Box 450, Boston, MA 02111; website: www.neec.com.
- Edited by Yi Ling Dai, MD, and Teresa P. Horan, MD. They can be reached at New England Eye Center, Tufts University School of Medicine, 800 Washington St., Box 450, Boston, MA 02111; website: www.neec.com.