Subretinal peripapillary biopsy-proven sarcoidosis: a case report

Abstract

Background To report a case of a subretinal, unilateral, peripapillary granuloma that was diagnosed as sarcoidosis by a 27-gauge pars plana vitrectomy subretinal biopsy. Sarcoidosis is a chronic idiopathic granulomatous inflammatory disease, that has ocular involvement in 10–80% of patients. It is often mistaken for many other primary ocular diseases because the condition can involve any structure in or around the eye. Previous case reports of peripapillary sarcoidosis have either been limited to the choroid or presented with additional ocular and systemic signs, hence have not required an intraocular biopsy. Case presentation A 54-year-old Filipino male presented with a 6-month history of painless blurred vision in his right eye. Fundus examination revealed a large white peripapillary lesion. Enhanced-depth imaging optical coherence tomography confirmed the subretinal location of the mass. Indocyanine green angiography demonstrated absolute hypofluorescent blockage with satellite lesions. A whole-body positron emission tomography scan demonstrated widespread lymphadenopathy, but investigations including an inguinal lymph node biopsy were inconclusive. Following growth of the peripapillary lesion and worsening vision, a 27-gauge pars plana vitrectomy subretinal biopsy was performed which confirmed sarcoidosis. He was treated with oral corticosteroids and transitioned to long term immunotherapy with methotrexate. Conclusions Sarcoidosis can present in the subretinal space, around the optic nerve without other ocular findings.

Ocular sarcoidosis in adults and children: update on clinical manifestation and diagnosis

“…In very rare cases, choroidal or subretinal biopsies in 27-Gauge pars plana vitrectomies are performed [ 119 ]. This is limited to atypical, progressing and sight-threatening lesions where other diagnostic methods were inconclusive [ 120 ]. A new alternative to histological biopsy of the uvea for diagnosing ocular sarcoidosis is histological detection of epithelioid granuloma and epithelioid cells in liquid-based cytology from vitreous body specimens and in the cell block procedure from vitreous cell components in an intraocular irrigating solution [ 121 ].…”