Spectrum of Ocular Manifestations in Anti-Synthetase Syndrome: A Case Report and Systematic Review

BACKGROUND: Anti-synthetase syndrome (aSS) is a rare autoimmune disorder primarily affecting the lungs and musculoskeletal system, with ocular involvement often underreported. While dry eye disease is the most frequently documented manifestation, other anterior and posterior segment involvement can also occur. METHODS: A case report and a systematic review. CASE PRESENTATION: We report a 47-year-old woman with aSS presenting with bilateral panuveitis and occlusive retinal vasculitis, a previously unreported combination. Ophthalmologic examination revealed compromised vision, anterior chamber reaction, posterior synechiae, papillitis, uveitic macular edema, and neovascularization of the disc (NVD). Extensive infectious and autoimmune workups guided the diagnosis, emphasizing the role of ocular findings in identifying aSS. The patient required multidisciplinary assessment and multifaceted treatment approach, including systemic corticosteroids, mycophenolate mofetil, intravenous immunoglobulin, and posterior sub-Tenon's triamcinolone injections, with consideration of anti-VEGF therapy for NVD. RESULTS: Our systemic review of 19 studies (86 patients) identified dry eye disease as the most common ocular manifestation (36%), with retinal vasculitis reported in only two cases (2.3%). Other reported manifestations included blurry vision, diplopia, ptosis, blepharitis, lagophthalmos, periorbital edema, and corneal disease. Compared to prior reports, our case represents one of the most severe ophthalmic presentations of aSS, highlighting the need for early recognition and intervention to prevent vision threatening sequelae. CONCLUSION: This case broadens the spectrum of ocular findings in aSS and highlights the importance of ophthalmologic evaluation in diagnosing systemic autoimmune diseases. Given the potential for vision-threatening complications, multidisciplinary collaboration is essential for holistic patient management.