Purpose: Ocular cicatricial pemphigoid (OCP) is a rare systemic autoimmune disease and a potentially blinding subepithelial blistering disorder. The purpose of this study was to describe the clinical spectrum of the disease and to assess the efficacy and safety of immunosuppressive agents in a cohort of patients with OCP. Methods: We conducted a monocentric retrospective cross-sectional cohort study of all unselected consecutive patients diagnosed with progressive OCP. Ocular and extra ophthalmological involvement as well as histological findings were gathered. Other outcomes were exposures to immunosuppressive agents defined by the use of a particular treatment. For each exposure, success in controlling ocular inflammation was graded as a complete response, response, or failure. Relapses and adverse events (AE) were also recorded. Results: Seventeen patients (34 affected eyes), 35% of whom were women, were included, with an age at diagnosis of 75 ± 11 years. Corneal involvement was diagnosed in 30 of 34 eyes, and 22 of 34 eyes had progressive fibrosing conjunctival involvement. Sixty-two exposures to immunosuppressive agents or biologics were recorded: dapsone, n = 26; mycophenolate mofetil, n = 6; azathioprine, n = 4; cyclophosphamide, n = 10; rituximab, n = 14; and intravenous immunoglobulin, n = 2. Rates of response and of complete response achievement during the first 3 months were 84% and 45%, respectively. Response rates were 100%, 100%, 86%, 85%, and 80% for intravenous immunoglobulin, mycophenolate mofetil, rituximab, dapsone, and cyclophosphamide, respectively. Thirteen percent of those drugs were discontinued because of an adverse event in 4 patients. Conclusions: This study describes the efficacy of immunosuppressants or biologics with an acceptable safety profile for OCP.
Purpose: To compare the efficiency of bilateral combined resection-recession surgery of the medial rectus muscle versus using a modified Fadenoperation for surgical management of esotropias that totally resolve under general anesthesia, which we called “purely tonic” esotropias. Methods: We included 65 unselected consecutive cases of patients with purely tonic esotropias who underwent surgery between October 2017 and 2018. Patients were divided into group I, who underwent a combined resection and recession of medial recti muscles, and group II, who underwent a bilateral medial rectus Fadenoperation using posterior strapping. A satisfactory outcome was defined as deviation ⩽10 prism diopters (PD), at near and distance fixation, between 3 and 6 months postoperatively. Results: Mean initial deviation was in group I, 19.6 PD and 32.0 PD, in group II, 23.6 PD and 33.5 PD, at distance and near fixation respectively. Postoperatively, in group I, 31 patients (91.2%) showed satisfactory alignment at near and distance fixation. Post-operatively, in group II, 25 patients (80.6%) showed satisfactory alignment at near and distance fixation. Conclusion: Our results suggest both techniques are good options to treat purely tonic esotropias.
Peters' anomaly (PA) is a rare anterior segment dysgenesis characterized by central corneal opacity and irido‐lenticulo‐corneal adhesions. Several genes are involved in syndromic or isolated PA (B3GLCT, PAX6, PITX3, FOXE3, CYP1B1). Some copy number variations (CNVs) have also been occasionally reported. Despite this genetic heterogeneity, most of patients remain without genetic diagnosis. We retrieved a cohort of 95 individuals with PA and performed genotyping using a combination of comparative genomic hybridization, whole genome, exome and targeted sequencing of 119 genes associated with ocular development anomalies. Causative genetic defects involving 12 genes and CNVs were identified for 1/3 of patients. Unsurprisingly, B3GLCT and PAX6 were the most frequently implicated genes, respectively in syndromic and isolated PA. Unexpectedly, the third gene involved in our cohort was SOX2, the major gene of micro‐anophthalmia. Four unrelated patients with PA (isolated or with microphthalmia) were carrying pathogenic variants in this gene that was never associated with PA before. Here we described the largest cohort of PA patients ever reported. The genetic bases of PA are still to be explored as genetic diagnosis was unavailable for 2/3 of patients. Nevertheless, we showed here for the first time the involvement of SOX2 in PA, offering new evidence for its role in corneal transparency and anterior segment development.
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