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Purpose: Evaluating the presence of class 3, 4, and 5 genetic variants in inherited retinal disease (IRD) genes in patients with retinopathy of unknown origin (RUO)., Methods: Multicentric retrospective study of RUO cases diagnosed between January 2012 and February 2022. General and ophthalmologic history, complete ophthalmologic examination, antiretinal antibodies, and IRD gene panel results were analyzed in every patient. Four RUO categories were defined: nonparaneoplastic autoimmune retinopathy, unilateral pigmentary retinopathy, asymmetrical pigmentary retinopathy, and acute zonal occult outer retinopathy., Results: The authors included 12 patients (9 females) across these four RUO categories. Mean age at inclusion was 45.6 years (20-68 years). Seven patients demonstrated class 3 variants in IRD genes. Of these, two also demonstrated class 5 variants in other IRD genes. The remaining five patients had negative panel results. IRD gene panel analysis allowed diagnosis refinement in 1 (8.3%) nonparaneoplastic autoimmune retinopathy patient in the RUO cohort. When considering the nonparaneoplastic autoimmune retinopathy subpopulation only, a higher diagnostic yield of 20% (1/5 patients) was achieved., Conclusion: Every suspected nonparaneoplastic autoimmune retinopathy patient should benefit from gene panel testing to not overlook undiagnosed IRDs. By contrast, unilateral pigmentary retinopathy, asymmetrical pigmentary retinopathy, and acute zonal occult outer retinopathy subpopulations did not benefit from genetic testing in this study.

Purpose: To evaluate the effect of tumor necrosis factor (TNF) inhibitor therapy on ocular relapses in patients with Susac syndrome., Methods: Multicenter retrospective cohort study of patients diagnosed with Susac syndrome according to classical clinical criteria. We evaluated the disease activity before and after introduction of anti-TNF therapy and its value as a steroid-sparing agent., Results: Five patients were included. All were initially treated with a combination of corticosteroids and classical immunosuppressive drugs. Infliximab was started in three patients, and adalimumab was started in two patients. Patients had on average 5 ocular relapses during a mean follow-up time of 2.59 years before introducing a TNF inhibitor, corresponding with on average 1.93 relapses per year. After the introduction of an anti-TNF agent, this number was reduced by factor 5.51 to an average of 0.35 relapses per year for a mean follow-up of 2.86 years (P = 0.10). Before anti-TNF introduction ocular relapses occurred at a mean daily dose of 34 mg of prednisone, whereas with anti-TNF treatment, corticosteroid administration could be completely stopped in four patients with one patient still needing 5 mg daily (P = 0.10). Infliximab and adalimumab generally were well tolerated, and no serious adverse events were reported., Conclusion: Although not statistically significant, our results suggest that anti-TNF therapy can be a valuable option for the treatment of ocular Susac syndrome and may especially be considered in those patients unresponsive to more conventional immunosuppressive treatment.

Purpose: To evaluate the efficacy and safety of verteporfin photodynamic therapy (V-PDT) for young adults and children with subfoveal choroidal neovascularization (CNV) associated with toxoplasmic retinochoroiditis., Methods: Patients with subfoveal CNV associated with toxoplasmic retinochoroiditis were treated with V-PDT and prospectively followed up. Before V-PDT and during follow-up, patients underwent visual acuity testing, complete ophthalmic examination including color photography, angiography with fluorescein and/or indocyanine green, and optical coherence tomography. The decision to retreat CNV was based on the criteria used in the Treatment of Age-Related Macular Degeneration with Photodynamic Therapy investigation., Results: Eight patients (5 males and 3 females) were treated at a mean age of 15.3 years (range, 5-31 years). CNV was 100% classic or predominantly classic in all study patients. Mean visual acuity increased from 20/225 (range, 20/400 to 20/50) to 20/123 (range, 20/200 to 20/25) during a mean follow-up period of 25 months (range, 5-49 months). Persistent closure of CNV was achieved in all eight patients (mean number of treatments, 1.75). Vascular anastomosis developed in the treated area in two patients, but there was no additional visual loss. No significant adverse effects of V-PDT were observed., Conclusion: V-PDT for subfoveal CNV associated with toxoplasmic retinochoroiditis appears to be effective and safe even in young adults and children. However, a longer follow-up is recommended to confirm our observations.