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Purpose: To document the long-term visual outcomes in patients with Blau syndrome. Methods: A retrospective institutional cohort study was conducted, and 13 patients with genetically confirmed Blau syndrome were included. Demographic and clinical data were collected from standardised medical charts. Baseline was defined as the first detected uveitis and data were recorded onwards at intervals of 1, 3, 5, 10, 15 and 20 years. Results: Anterior uveitis was the most common classification at baseline (57.1%). Among patients with documented uveitis lasting 10 years or more, all of them developed panuveitis. Median logMAR visual acuity at baseline was 0 (range −0.5; 0.7), 0.19 (range 0; 1.5) at year 5, and 0.7 (range 0.1 – no perception of light) at year 20, as recorded in 13, 16, and 10 eyes, respectively. All patients received treatment with topical and oral steroids, and multiple systemic immunosuppressants including biologics. Disease control, defined as having cells <1+ in both eyes and using topical steroid eye drops less than twice daily, was achieved in 14.3% to 37.5% of patients at the different time points. Cataract surgery was performed in 12 eyes of 8 patients, 3 eyes of 3 patients necessitated glaucoma surgery, and 4 eyes of 4 patients required surgery for retinal detachment. Conclusion: Uveitis associated with Blau syndrome commonly leads to severe, chronic panuveitis, requiring long-term systemic immunosuppression. Early diagnosis and timely initiation of biologics may prevent significant visual impairment. [ABSTRACT FROM AUTHOR]

Right eye, sequential fundus imaging demonstrating an expanding area of dark without pressure (white arrows) adjacent to an ocular toxoplasmosis lesion over 12 months observations. Discussion In this case report, we highlight fluctuations in the appearance of areas of DWP corresponding to delineated areas of ellipsoid zone hyporeflectivity juxtaposed with ocular toxoplasmosis lesions. Keywords: Dark without pressure; ocular toxoplasmosis; toxoplasmosis gondii; ellipsoid zone; shadow sign; uveitis EN Dark without pressure ocular toxoplasmosis toxoplasmosis gondii ellipsoid zone shadow sign uveitis 624 626 3 04/04/23 20230401 NES 230401 Ocular toxoplasmosis occurs secondary to a retinal infection by I Toxoplasma gondii i , an obligate intracellular protozoan parasite.[1] Typical ocular toxoplasmosis lesions are characterised by a unilateral, focal retinal lesion, which is usually described as necrotising retinitis[2],[3] and account for over 90% of presentations.[4] The term dark without pressure (DWP) was originally coined by Nagpal et al. to describe homogeneous, geographical, flat, brown areas on the fundus[5] and correspond to a thinned, hyporeflective ellipsoid zone band on optical coherence tomography (OCT).[[6], [8]] While most commonly seen in isolation[[5], [7]] and of unknown aetiology, their perilesional association with infective aetiology has been reported in recent studies of Ebola virus disease (EVD) retinal lesions.[8],[9] In EVD survivors, areas of DWP were also observed adjacent to lesions typical of ocular toxoplasmosis and in one patient observed to slowly expand over a 12-month observation (Figure 1).[8] Here, we report a case further highlighting fluctuations of DWP associated with ocular toxoplasmosis reactivation. [Extracted from the article]