Presenters: Alessandro Berni (ITALY)
An 82-year-old Caucasian man presented with unilateral relentless hemorrhagic retinitis at the posterior pole that was further diagnosed as vitreoretinal lymphoma (VRL).
Case Summary:
An 82-year-old Caucasian man presented with unilateral relentless hemorrhagic retinitis at the posterior pole in the right eye. His past ocular history was relevant for a previous diagnosis of neovascular age-related macular degeneration (AMD) treated with intravitreal anti-VEGF injections without clinical improvement. The patient’s past and present medical history were unremarkable.
On ophthalmological examination at baseline, his visual acuity was counting fingers in the right eye and 20/50 in the left eye. There were no signs of inflammation in the anterior segment. Fundus examination showed a 2+ vitreitis in the right eye and an area of posterior pole hemorrhagic retinitis (Figure 1). In the left eye, there were no retinal lesions and a 1+ vitreitis.
OCT revealed the presence of full-thickness retinitis with macular detachment in the right eye and small intraretinal cysts in the left eye. (Figure 2)
The clinical assessment was therefore compatible with a bilateral panuveitis with hemorrhagic retinitis in the right eye and macular edema in the left eye. Our primary diagnostic suspect was CMV retinitis although the patient was immunocompetent.
During hospitalization, we started intravenous ganciclovir therapy, and we performed a complete laboratory and diagnostic workup to rule out systemic autoimmune (i.e. sarcoidosis) or infectious diseases (i.e. syphilis, endogenous endophthalmitis), which resulted all negative.
Chest CT scan and brain MRI were within normal limits. We then decided to perform a diagnostic vitrectomy. The cytopathologic analysis turned out positive for large B-cell malignant lymphocytes CD20+ compatible with a diagnosis of vitreoretinal lymphoma. MYD88 mutation was positive in the vitreous cavity. After a multidisciplinary discussion with the onco-hematologists, we decided to start intravitreal methotrexate injections in both eyes in association with external beam ocular globe radiotherapy. Systemic chemotherapy was judged contraindicated due to the advanced age of the patient.
In conclusion, this case highlights the different ocular manifestations of vitreoretinal lymphoma. Specifically, our patient presented with a retinitis-like appearance, an unusual presentation of vitreoretinal lymphoma, that could be misdiagnosed as CMV hemorrhagic retinitis.
Take home-messages:
- VRL is the most common masquerade syndrome.
- VRL should be considered as a CNS disease since 80% of patients with primary VRL may have a secondary CNS involvement.
- VRL represents a diagnostic and therapeutic challenge.
- Vitrectomy is the gold standard for diagnosis demonstrating the presence of malignant lymphocytes in the vitreous cavity, although up to one-third of patients may result falsely negative.
- Other techniques including IL10, IL10/6 ratio, and MYD88 mutation in vitreous and aqueous humor may increase diagnostic sensitivity.
Key Images:
Figure 2. Optical coherence tomography (OCT) B-scan reveals full-thickness retinitis with macular detachment in the right eye (upper image) and small intraretinal cysts (yellow arrow) in the left eye (bottom image).
