Ophthalmology Dx: An Amelanotic Mystery

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  • Figure 1. This color fundus image shows a large irregular nonpigmented choroidal mass along the inferior arcade extending into the fovea with overlying subretinal fluid.

  • Figure 2. Our patient’s optical coherence tomography B-scan shows an irregular surface contour due to choroidal lesion, with overlying subretinal fluid, and few cells in vitreous.

  • Figure 3. A fundus autofluorescence reveals hyperautofluorescence corresponding to the lesion.

  • Figure 4. An indocyanine green angiography demonstrates hypocyanescence corresponding to the patient’s lesion.

  • Figure 5. Ophthalmic ultrasound displays a dome-shaped lesion inferior temporally measuring 1.33 mm height x 16.45 mm length x 5.74 mm width.

A 44-year-old woman was referred for progressive blurry vision in the left eye for 3 weeks. Her medical history was negative for any chronic medical conditions, malignancies, or ocular or autoimmune conditions.

On examination, her visual acuity was 20/20 (Snellen) in the right eye and 20/25-3 in the left. Her anterior segment examination was unremarkable. Funduscopic examination of the left eye revealed a large irregular non-pigmented choroidal mass along the inferior arcade extending into the fovea with overlying subretinal fluid (SRF) and retinal pigment epithelium (RPE) changes along anterior margin (Figure 1). There was no overlying drusen or orange pigment. Optical coherence tomography (OCT) showed an irregular surface contour due to the choroidal lesion, with overlying SRF and few vitreous cells (Figure 2). The lesion appeared hyperautofluorescent on fundus autofluorescence (FAF) (Figure 3) and hypocyanescent on indocyanine green angiography (ICG-A) (Figure 4). Ophthalmic ultrasound demonstrated a dome-shaped lesion inferior temporally measuring 1.33 mm height x 16.45 mm length x 5.74 mm width (Figure 5).

Choroidal granuloma occurs in 5% of patients with sarcoidosis.1 This incidence rises to 12% if only patients with posterior segment involvement are examined.2 Slit-lamp examination usually shows no signs of associated anterior uveitis.3 Unless there is macular or optic nerve...

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Choroidal granuloma occurs in 5% of patients with sarcoidosis.1 This incidence rises to 12% if only patients with posterior segment involvement are examined.2 Slit-lamp examination usually shows no signs of associated anterior uveitis.3 Unless there is macular or optic nerve involvement, choroidal sarcoid granuloma may go unnoticed. A large lesion may mimic a choroidal tumor, including amelanotic melanomas and choroidal metastasis. Other differential diagnoses of this non-pigmented usually unilateral choroidal lesion encompass choroidal tuberculoma, choroidal lymphoma, solitary idiopathic choroiditis, syphilis, ocular toxocariasis, toxoplasmosis, and bartonellosis.

Solitary choroidal granuloma can be a presenting feature of established pulmonary sarcoidosis.4 This was precisely our patient’s experience as her chest computed tomography scan showed multiple lung nodules including mediastinal lymphadenopathy. A lung biopsy confirmed the diagnosis of sarcoidosis. Sarcoid granuloma often responds well to oral steroid therapy, as was the case for our patient, who demonstrated interval decrease in thickness, near resolution of subretinal fluid and stable vision.

References

1. Obenauf CD, Shaw HE, Sydnor CF, Klintworth GK. Sarcoidosis and its ophthalmic manifestations. Am J Ophthalmol. 1978;86(5):648-655. doi:10.1016/0002-9394(78)90184-8

2. Gould H, Kaufman HE. Sarcoid of the fundus. Arch Ophthalmol. 1961;65:453-456. doi:10.1001/archopht.1961.01840020455023

3. Desai UR, Tawansy KA, Joondeph BC, Schiffman RM. Choroidal granulomas in systemic sarcoidosis. Retina. 2001;21(1):40-47. doi:10.1097/00006982-200102000-00007

4. Doolan E, Ryan A. Solitary choroidal granuloma. BMJ Case Rep CP. 2021;14(4):e243238. doi:10.1136/bcr-2021-243238

This case was contributed by Sandra Hoyek, MD, a postdoctoral research fellow in ophthalmology at Massachusetts Eye and Ear and Harvard Medical School, Boston.

The case was edited by Nimesh Patel, MD, an instructor of Ophthalmology at Massachusetts Eye and Ear and Harvard Medical School and Director of Pediatric Retina at Boston Children’s Hospital, Boston

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