Ocular complications of SAVI: A unique case of bilateral uveitis and retinal vasculitis.

Purpose: To describe a case of bilateral panuveitis in a patient with Stimulator of Interferon Genes (STING)-Associated Vasculitis with Onset in Infancy (SAVI). Observations: A 45-year-old patient diagnosed with SAVI presented bilateral panuveitis and uncontrolled secondary intraocular hypertension due to structural complications from uveitis. Multimodal imaging revealed the presence of intraretinal fluid and bilateral vasculitis. The patient was started with systemic methotrexate. Conclusions and importance: This case is essential to characterize ocular involvement in patients with SAVI. Awareness of these ocular manifestations is crucial for timely management and improvement of visual prognosis.

Mid-term safety and effectiveness of intravitreal dexamethasone implant to treat persistent cystoid macular edema in vitrectomized eyes for bacterial endophthalmitis.

PURPOSE: To evaluate the mid-term safety and effectiveness of intravitreal dexamethasone implant (DEX-i) for treating unresponsive to medical therapy cystoid macular edema (CME) in vitrectomized eyes for endophthalmitis. METHODS: Retrospective and interventional case series study conducted on vitrectomized eyes for endophthalmitis that developed a CME that did not adequately respond to medical therapy, who underwent 0.7-mg DEX-i. Main outcome measures were changes in central retinal thickness (CRT) and best corrected visual acuity (BCVA). RESULTS: Eleven eyes were included in the study. Microbiological findings of vitreous biopsies were 7 (63.6%) staphylococcus epidermidis; 3 (27.3%) Pseudomonas aeruginosa; and 1 (9.1%) Propionibacterium acnes. Median (interquartile range, IqR) duration of CME was 4.0 (3.0-4.0) months. Median (IqR) time between vitrectomy and DEX-i was 9.0 (9.0-11.0) months. Median CRT was significantly decreased from 548.0 (412.8-572.5) µm at baseline to 308.0 (281.3-365.5) µm at month 6 (p = 0.0009, Friedman test). Median BCVA significantly improved from 38.0 (30.5-44.8) letters at baseline to 50.0 (46.8-53.0) letters at month 6 (p < 0.0001, Friedman), with 9 (81.8%) eyes gaining ≥ 10 letters. Elevation of intraocular pressure was observed in one (9.1%) eye, which was successfully controlled with medical therapy. No recurrence of endophthalmitis or other complications was observed. Eight (72.7%) eyes required an additional DEX-i, while 3 (27.3%) were successfully controlled with only one DEX-i. CME recurrence occurred in 5 (62.5%) Gram-positive and 3 (100.0%) Gram-negative bacteria (p = 0.2357). CONCLUSION: In vitrectomized eyes for endophthalmitis affected by CME unresponsive to medical therapy, DEX-i had an acceptable safety profile and achieved favorable outcomes. The possibility of suppressing mechanisms for infection control should be taken into account, although correct management of endophthalmitis and long time without reactivation before DEX-i reduce the risk.

Development and Implementation of the AIDA International Registry for Patients with Non-Infectious Uveitis.

INTRODUCTION: The aim of this paper is to point out the design, development and deployment of the AutoInflammatory Disease Alliance (AIDA) International Registry for paediatric and adult patients with non-infectious uveitis (NIU). METHODS: This is a physician-driven, population- and electronic-based registry implemented for both retrospective and prospective collection of real-world demographics, clinical, laboratory, instrumental and socioeconomic data of patients with uveitis and other non-infectious inflammatory ocular diseases recruited through the AIDA Network. Data recruitment, based on the Research Electronic Data Capture (REDCap) tool, is thought to collect standardised information for real-life research and has been developed to change over time according to future scientific acquisitions and potentially communicate with other similar instruments. Security, data quality and data governance are cornerstones of this platform. RESULTS: Ninety-five centres have been involved from 19 countries and four continents from 24 March to 16 November 2021. Forty-eight out of 95 have already obtained the approval from their local ethics committees. At present, the platform counts 259 users (95 principal investigators, 160 site investigators, 2 lead investigators, and 2 data managers). The AIDA Registry collects baseline and follow-up data using 3943 fields organised into 13 instruments, including patient's demographics, history, symptoms, trigger/risk factors, therapies and healthcare utilization for patients with NIU. CONCLUSIONS: The development of the AIDA Registry for patients with NIU will facilitate the collection of standardised data leading to real-world evidence and enabling international multicentre collaborative research through inclusion of patients and their families worldwide.

Validation of a new system for triage of ophthalmic emergencies: the alphabetical triage score for ophthalmology (ATSO).

PURPOSE: To propose a modified ophthalmic triage system based on simple ophthalmic symptoms, signs and anamnestic data and validate its safety and effectiveness. METHODS: Phase 1 of the study was a retrospective review of chart records of patients admitted at the ophthalmic emergencies room (OER); phase 2 was a prospective study conducted on all consecutive patients presenting in the OER between April 1st, 2018, and May 30th, 2018. We selected the following six factors as predictors of urgency levels: altered vision, ocular behavior, color, distress, eye trauma, floaters and flashes. ATSO final score can be eventually converted into risk groups: low-risk group (scoring 0-3), intermediate-risk group (scoring 4-5) and high-risk group (scoring > 6). RESULTS: A total of 953 consecutive patients who presented to our OER over a two-month period were considered for participation in the study. The male-to-female ratio was 1.24:1. The mean age of the participants was 53 years (range 18-92, SD 19 years). ATSO score significantly correlated with urgency levels (p < .00001). The sensitivity of ATSO in differentiating urgent from non-urgent conditions was 91.4%, and the specificity was 98.2%. All hospitalized patients (30, 3.15%) have been coded as intermediate/high risk according to the ATSO score. CONCLUSION: The use of the ATSO score for patients at the OER provides the clinician with a reliable predictor of urgency, being at the same time safe and effective. The ATSO score may represent a valuable tool to implement triage of ocular patients in the emergency department.

CMT2A Harboring Mitofusin 2 Mutation with Optic Nerve Atrophy and Normal Visual Acuity.

Charcot-Marie-Tooth (CMT) constitutes a group of heterogeneous hereditary motor and sensor neuropathies. Mutations in mitofusin-2 (MFN2) cause CMT type 2A by altering mitochondrial fusion and trafficking along with the axonal microtubule system. In literature patients presenting with CMT2A are reported as having a subacute onset of optic atrophy associated with central scotoma and color vision defects. We report on the clinical and genetic findings in a 40 years-old Caucasian woman presenting with CMT type 2A and MFN2 mutation (c.2258duplT/p.Leu753fs) who presented bilateral progressive optic atrophy with bilateral severe concentric narrowing of the visual field but normal visual acuity and color vision. This is the first report that describes such phenotypical manifestation of an MFN2 mutation suggesting that the molecular mechanisms underlying the mitofusin-2 function alteration at optic nerve need to be investigated further.

Systemic Steroid Sparing Effect of Intravitreal Dexamethasone Implant in Chronic Noninfectious Uveitic Macular Edema.

PURPOSE: To evaluate the effectiveness and the systemic corticosteroid sparing effect of a single intravitreal dexamethasone (DEX) implant in patients with chronic noninfectious uveitic macular edema (UME). METHODS: Data from 22 eyes treated with DEX implant for UME related to systemic or ocular-confined noninfectious diseases were retrospectively analyzed. RESULTS: The mean systemic prednisone (or equivalent) dosage significantly decreased at 3- and 6-month follow-up evaluations compared to baseline (P = 0.002 and P = 0.01, respectively). Compared to baseline, central macular thickness values significantly decreased at 1-, 3-, and 6-month evaluations after the implantation (P < 0.0001). The mean best corrected visual acuity (BCVA) value gradually improved at 1-, 3-, and 6-month visits compared to baseline (P = 0.009, P = 0.0004, and P = 0.0001, respectively). At fluorescein angiography, active retinal vasculitis was identified in 11 (50%) eyes at baseline, 3 (13.6%) eyes at 1- and 3-month follow-up, and in 2 (9.1%) eyes at the last visit. Regarding side effects, 3/22 (13.6%) eyes presented a newly recognized intraocular hypertension at 1-month follow-up; however, intraocular pressure reverted to normal values within the 6-month follow-up in all cases. CONCLUSIONS: Treatment with intravitreal DEX implant in noninfectious uveitis allowed a significant corticosteroid sparing effect, a significant improvement in BCVA, and a prompt resolution of UME and vasculitis. No safety issues were observed.