Woman presents with right eye redness, shadow in vision
Click Here to Manage Email Alerts
A 59-year-old woman who presented to an outside eye care provider 1 year prior for right eye redness and a shadow in her vision was referred to the New England Eye Center when the redness did not respond to eye drops.
The patient’s medical history was notable for hypertension, hyperlipidemia, prediabetes, hypothyroidism and anxiety. She was taking atorvastatin, levothyroxine and spironolactone. She had an allergy to erythromycin. She was not on any ophthalmic medications and had no prior ophthalmic surgeries.
Source: Julia Watson, MD, and Shilpa Desai, MD
Examination and imaging
Best corrected visual acuity was 20/25-2 in both eyes. Pupils were equally round and reactive to light without relative afferent pupillary defect, and IOP was within normal limits. Anterior segment slit lamp exam of the right eye was unremarkable except for a dilated straight conjunctival vessel at 3 o’clock with surrounding corkscrew episcleral vessel (Figure 1). Dilated fundus exam revealed a nasal elevated bilobed mass that was mostly white with areas of pigmentation. There was no overlying orange pigment or drusen. Subretinal fluid was noted inferiorly (Figure 2).
Ultrasound biomicroscopy showed an 11.7 mm wide ciliary body mass with lacunae/cysts (Figure 3). B-scan showed a 10.53 mm thick mass and associated inferior serous retinal detachment (Figure 4).
What is your diagnosis?
See answer below.
Pigmented mass
The differential diagnosis for a pigmented mass originating from the ciliary body is broad but may be organized into benign, malignant and inflammatory etiologies.
Benign etiologies include iridociliary epithelial cyst, melanocytoma, melanocytic nevus, leiomyoma, retinal pigment epithelial adenoma and Fuchs’ adenoma. Malignant etiologies include melanoma and metastatic tumor. Sarcoid nodules are the primary inflammatory etiology.
Clinical features such as a dilated tortuous episcleral vessel overlying the tumor (sentinel vessel) may hint at an etiology. Additionally, the B-scan demonstrated a solid tumor pattern with medium internal reflectivity, making melanoma more likely. However, biopsy is generally required to differentiate between these entities.
Workup and management
The patient was counseled on the available management options, which included observation, biopsy and enucleation. The risks and benefits of each option were discussed, and the patient elected to pursue biopsy. Pars plana vitrectomy and fine-needle aspiration biopsy (FNAB) were performed, and tissue was submitted for histopathology as well as gene expression profiling. Pathology showed malignant melanoma with epithelioid cell type. Gene expression profiling indicated 2% risk for metastasis within the next 5 years. Preferentially expressed antigen in melanoma (PRAME) was negative. Due to the large size of the tumor, Gamma Knife stereotactic radiosurgery was recommended and subsequently performed.
The patient was seen every 3 months for dilated fundus exam and B-scan ultrasonography. She was additionally followed by her radiation oncologist and had yearly surveillance blood work and liver imaging. Six months after Gamma Knife surgery, she was noted to have radiation retinopathy, which manifested as new intraretinal hemorrhages inferiorly (Figure 5a). Six months later, these hemorrhages had resolved (Figure 5b). Eighteen months after Gamma Knife surgery, she was noted to have posterior synechiae of the right iris, presumed to be secondary to low-grade inflammation after radiation therapy, and was started on cycloplegic and steroid drops. Her visual acuity in the right eye worsened to count fingers, and she was taken for cataract surgery and synechiolysis 20 months after treatment, with subsequent improvement in visual acuity to 20/40. She developed a posterior capsule opacification within 3 months, and YAG laser capsulotomy was performed. Six months later, visual acuity improved to 20/25 in the right eye, and the tumor thickness was measured at 5.7 mm.
Six months later, the patient returned for routine follow-up, and the tumor thickness was measured at 6.85 mm. The change in thickness was suspected to be due to subretinal fluid given the appearance on B-scan (Figure 6), and observation was recommended. She was seen 2 months later for urgent evaluation with a chief complaint of yellow vision of the right eye. At that time, clinical exam and imaging with OCT macula appeared stable. She presented 1 month later for surveillance and reported persistent yellowing of vision. BCVA was stable at 20/25. The tumor’s thickness had increased to 10.73 mm on B-scan (Figure 7). Options including observation, biopsy and enucleation were discussed, and the patient elected to proceed with biopsy in addition to oculoplastic consultation for possible enucleation in the interim. Three and a half years after initial treatment with Gamma Knife radiosurgery, FNAB was again positive for malignancy with pigmented malignant melanocytes with spindle and epithelioid cell types identified (Figure 8). The patient chose enucleation of the right eye.
Discussion
Ciliary body melanomas are rare, representing 4% to 7% of uveal melanomas. The goal of treatment of any ocular malignancy is first to save the patient’s life (ie, prevention of metastatic dissemination). Preservation of the eye is the next priority, followed by preservation of eye function. Until the Collaborative Ocular Melanoma Study, which demonstrated no mortality difference at 1 year and 5 years between patients treated with enucleation vs. radiation prior to enucleation, enucleation was the standard of care for treatment. Eye-conserving treatments include surgical excision and primarily radiotherapies, which include plaque brachytherapy, proton beam radiotherapy and stereotactic radiosurgery. The decision to pursue a specific type of radiotherapy depends on many factors, including tumor size, location and patient preference/geography. Laser therapy is also an option but more often is supplemental depending on the tumor size and location. Gene expression profiling of biopsied tissue helps to guide management as it determines a patient’s risk for metastasis within the next 5 years and guides surveillance frequency.
Given the rarity of ciliary body melanoma, there is a paucity of literature regarding the rate of local recurrence specifically for ciliary body melanoma after eye-preserving therapies. Chang and McCannel report an overall local treatment failure rate of 6.15% after radiation modalities for choroidal melanoma vs. 18.6% for surgical modalities. Zahorjanová and colleagues report a 17% rate of enucleation following treatment of uveal melanoma with stereotactic radiosurgery. Regarding whether re-treatment is an option, Riechardt and colleagues report in a 2014 retrospective case series of 48 patients a Kaplan-Meier estimator for local tumor control of 92.1% at 10 years for patients whose recurrent uveal melanoma was treated with salvage proton beam therapy.
These studies highlight the importance of counseling patients diagnosed with uveal melanoma on the risks of treatment failure and therefore the possibility of ultimately requiring enucleation despite initial treatment. In the case of our patient, at the time of detection of recurrence, BCVA was 20/25, but she essentially had tunnel vision given the size and position of her tumor. Ultimately, she reported her decision to enucleate was “easy” given the 3.5 years of countless appointments, radiation complications and stress of living with ciliary body melanoma.
- References:
- BCSC. Ophthalmic pathology and intraocular tumors. Section 4. American Academy of Ophthalmology. 2021-2022.
- Chang MY, et al. Br J Ophthalmol. 2013;doi:10.1136/bjophthalmol-2012-302490.
- Choroidal and ciliary body melanoma. https://eyewiki.aao.org/Choroidal_and_Ciliary_Body_Melanoma. Updated Nov. 11, 2022. Accessed November 1, 2022.
- DecisionDx-UM overview. https://castletestinfo.com. Published 2022. Accessed Nov. 1, 2022.
- Riechardt AI, et al. Am J Ophthalmol. 2014;doi:10.1016/j.ajo.2014.07.013.
- Salmon JF. Ocular tumours. In: Kanski’s Clinical Ophthalmology. 9th ed. Elsevier Ltd; 2020:827-880.
- Uveal melanoma. https://eyewiki.aao.org/Uveal_Melanoma. Updated Nov. 11, 2022. Accessed Nov. 1, 2022.
- Zahorjanová P, et al. Cesk Slov Oftalmol. 2020;doi:10.31348/2020/6.
- For more information:
- Edited by Yi Ling Dai, MD, and Teresa P. Horan, MD, of New England Eye Center, Tufts University School of Medicine. They can be reached at ydai@tuftsmedicalcenter.org and thoran@tuftsmedicalcenter.org.