November 17, 2020
7 min read
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Woman presents with unilateral blurry vision

A solitary 5.5-mm raised amelanotic choroidal lesion was seen in the left eye.

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A 61-year-old woman was referred to the New England Eye Center’s comprehensive ophthalmology service with decreased vision in the left eye.

She first noticed changes in her vision approximately 1 week prior. This was accompanied by a slight ache around the left orbit that had not progressed since onset. She denied flashes, floaters, light sensitivity and diplopia.

Christine Benador-Shen
Christine Benador-Shen
Malgorzata Dymerska Peterson
Malgorzata Dymerska Peterson

Her medical history was significant for scleroderma requiring intravenous immunoglobulin, monoclonal gammopathy of undetermined significance, hyperparathyroidism and small cell lung cancer treated with right upper lobectomy 4 months before presentation.

Examination

Best corrected visual acuity was 20/40 in the right eye and 20/400 in the left eye. The pupils were round and reactive with no relative afferent pupillary defect. IOPs were 16 mm Hg in the right eye and 17 mm Hg in the left. External and slit lamp findings were normal. On dilated exam, the vitreous was clear, and the optic nerves appeared pink and sharp with no disc swelling. The macula, vessels and peripheral retina were normal in the right eye. Examination of the left eye revealed a solitary 5.5-mm raised amelanotic choroidal lesion (Figure 1a). The vessels and peripheral retina were normal. B-scan ultrasonography revealed a choroidal mass 5.67 mm in thickness with high internal reflectivity (Figure 2). The patient was referred to the retina service for further evaluation.

Fundus photos
Figure 1. Fundus photograph of the left eye on initial presentation showing lesion in the temporal macula (a). Fundus photograph of the left eye at 1-week follow-up showing interval enlargement of the lesion (b).

Source: Jarod Santoro, MD, and Jay S. Duker, MD
B-Scan ultrasonography
Figure 2. B-scan ultrasonography showing a choroidal mass 5.67 mm in thickness with high internal reflectivity.

At her visit the following week, BCVA was stable in the right eye and had decreased to counting fingers vision in the left. Dilated fundus exam of the left eye was significant for a single 7-mm raised lesion in the temporal macula (Figure 1b). The rest of the exam was unchanged. Fluorescein angiography (FA) of the left eye showed hypofluorescence of the lesion in early phase and heterogeneous hyperfluorescence in late phase (Figure 3). Indocyanine green (ICG) angiography showed hypocyanescence in all phases, with no leakage or inherent vasculature (Figure 4).

FA of the left eye
Figure 3. FA of the left eye showing hypofluorescence of the lesion in early phase (0:35) and heterogeneous hyperfluorescence in late phase (5:15).
ICG angiography showing hypocyanescence
Figure 4. ICG angiography showing hypocyanescence at early phase (0:48) and late phase (4:11).

What is your diagnosis?

See answer below.

Solitary raised amelanotic choroidal lesion

The differential diagnosis for a solitary raised non-pigmented choroidal lesion includes neoplastic, inflammatory, infectious and idiopathic etiologies.

Solitary raised non-pigmented choroidal lesions should raise the suspicion for a possible neoplasm such as an amelanotic choroidal melanoma, choroidal hemangioma or choroidal metastasis. Amelanotic choroidal melanomas are primary neoplasms that are typically dome shaped, unilateral and unifocal. They often enlarge if left untreated over the course of months and can exhibit signs of active enlargement, such as prominent clumps of orange pigment and subretinal fluid. Larger lesions often develop a serous retinal detachment over or around the tumor. On FA and ICG, amelanotic choroidal melanomas can have prominent intralesional choroidal blood vessels. Ultrasonography shows a choroidal lesion with low to medium reflectivity. A choroidal hemangioma is a benign vascular neoplasm. It presents as an orange-red elevated mass. FA and ICG show early filling with late washout and prominent intrinsic tumor vessels.

Our patient’s rapid progression in size of the lesion over the course of 1 week, as well as lack of classic findings on ancillary testing, make these neoplasms less likely. A solitary amelanotic choroidal lesion that has a high internal reflectivity and is echodense on ultrasonography, as seen our patient, is suspicious for a choroidal metastasis. Our patient’s exam, ancillary testing and recent diagnosis of lung cancer place choroidal metastasis at the top of our differential diagnosis.

Inflammatory and infectious etiologies such as posterior scleritis and choroidal granuloma should also be considered. Posterior scleritis typically presents with an injected eye that is tender and painful, but one-third of cases are pain free. More than half of the cases will have associated intraocular inflammation. Ultrasonography will show scleral thickening and occasionally fluid in Tenon’s space (the T sign). Choroidal granulomas are most commonly associated with sarcoidosis and tuberculosis but can be idiopathic. They appear as a yellow-white mass and can have associated subretinal fluid. OCT may show thickening of the choroid. There may also be intraocular inflammation. Clinical history, exam and ancillary laboratory tests can be helpful in patients suspected of choroidal granuloma. Our patient was considered immunocompetent as she was not currently taking any immunosuppressants and because her scleroderma was localized to the skin. The lack of inflammatory signs on clinical examination and recent diagnosis of cancer made these etiologies less likely.

Sclerochoroidal calcifications are degenerative lesions that develop in both eyes. They appear as minimally elevated pale lesions that are commonly located along the arcades in the superotemporal quadrant. Ultrasonography shows dense hyperreflectivity with shadowing of the orbital tissues, which was not seen on our patient’s ultrasonography.

Solitary idiopathic choroiditis can be considered when all other possible diagnoses have been ruled out, as it is a diagnosis of exclusion.

Workup and management

Given our patient’s clinical exam, ancillary test findings and history of cancer, she was referred urgently to hematology/oncology and radiation oncology for further evaluation of a probable choroidal metastasis. MRI of the brain demonstrated four small lesions with contrast enhancement radiographically, consistent with metastatic disease. PET/CT demonstrated FDG avidity of the left lateral orbital lesion with additional FDG avid sites, including lymph nodes, multiple pulmonary nodules, liver lesions and subcutaneous nodules consistent with metastatic disease.

Our patient’s cancer had been detected on CT of the chest for lung cancer screening 4 months before initial presentation, and she had elected to proceed with right upper lobectomy. She was found to have small cell lung carcinoma with negative margins and negative lymph nodes at the time of surgery. Her MRI and PET/CT at the time of diagnosis were negative for metastatic disease. She was scheduled to start adjuvant chemotherapy, but initiation was deferred due to outbreak of the COVID-19 pandemic.

Our patient had swift deterioration of her vision due to rapid enlargement of the choroidal metastasis. Local palliative radiotherapy was quickly initiated to restore useful vision in the left eye. She subsequently started systemic treatment with whole brain radiation and adjuvant chemotherapy for metastatic disease. At her follow-up primary care visit 3 months after local palliative treatment and whole brain radiation, she endorsed gradual improvement in vision and felt that it had returned to baseline.

Discussion

Choroidal metastasis is the most common intraocular malignancy in adults. It usually occurs late in the setting of disseminated disease and is a poor prognostic indicator. A large retrospective study by Shields and colleagues found that primary breast cancer was the most common source of choroidal metastases, accounting for 47% of cases, and lung primaries were the second most common source, accounting for another 21% of choroidal metastases. Choroidal metastases of primary lung tumors are commonly unilateral and unifocal and precede the diagnosis of lung cancer more frequently than those of breast cancer primaries.

Diagnosis of choroidal metastasis can be difficult. This is especially true if there is no known diagnosis of a primary cancer at the time of presentation, which occurs in up to a third of cases. Patients can present with nonspecific symptoms such as blurred vision, flashes, floaters and eye pain. Ancillary imaging can be helpful in determining the diagnosis. B-scan ultrasonography typically shows echodense lesion(s) with high internal reflectivity. These findings can be helpful in distinguishing choroidal metastasis from choroidal melanoma, which has low to medium reflectivity and is acoustically hollow. FA shows early hypofluorescence with late heterogeneous hyperfluorescence. ICG shows hypocyanescence in all phases. OCT of the lesion can show an irregular “lumpy bumpy” anterior contour and posterior shadowing. If ancillary imaging is indeterminate and there is no primary source found on workup, then fine-needle aspiration can provide cytological evidence of metastasis vs. primary occurrence. In cases in which there is history of cancer but no known history of metastases, as seen in our patient, referral to oncology and further workup specific to that cancer type should be initiated.

Local control of choroidal metastases can provide favorable visual outcomes. Treatment options include external beam radiotherapy, gamma knife radiotherapy, proton beam radiotherapy, plaque radiotherapy and photodynamic therapy. Discussion among the patient, ophthalmologist and oncology team guides treatment. These local treatments are provided to improve or maintain the patient’s quality of life by returning functional vision or preventing further vision loss. Although local control can be achieved, systemic prognosis is guarded. A retrospective study by Shah and colleagues found the life expectancy after detection in lung primaries to be 12 months. Treatment can be initiated with the goal of improving progression-free survival and is determined by the type of cancer and whether other metastases are identified. Systemic treatment should allow the patient to maintain their quality of life. In these patients, life expectancy is limited.

Our patient presented with blurry vision and a single choroidal lesion with progressive vision loss. A history of cancer put choroidal metastasis high on the differential, but other etiologies, including neoplastic, infectious and inflammatory, were considered. Additional imaging, including B-scan ultrasonography, FA and ICG, was helpful in securing the diagnosis. Prompt diagnosis and referral can direct proper treatment and palliative therapy.