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Congenital aniridia is a severe autosomal dominant congenital panocular disorder, mainly associated with pathogenic variants in the PAX6 gene. The objective of the study was to investigate the mutational and clinical spectra of congenital aniridia in a cohort of 117 patients from Russia. Each patient underwent detailed ophthalmological examination. From 91 unrelated families, 110 patients were diagnosed with congenital aniridia and 7 with WAGR syndrome (Wilms tumor, Aniridia, Genitourinary anomalies, and mental Retardation syndrome). The clinical presentation in aniridia patients varied from the complete bilateral absence of the iris (75.5%) to partial aniridia or iris hypoplasia (24.5%). Additional ocular abnormalities were consistent with previous reports. In our cohort, we saw a previously not described high percentage of patients (45%) who showed non-ocular phenotypes. Prevalence of deletions coherent with WAGR syndrome appeared to be 19.4% out of sporadic patients. Among the other aniridia cases, PAX6 deletions were identified in 18 probands, and small intragenic changes were detected in 58 probands with 27 of these mutations being novel and 21 previously reported. In 3 families mosaic mutation was transmitted from a subtly affected parent. Therefore, PAX6 mutations explained 96.7% of aniridia phenotypes in this study with only 3 of 91 probands lacking pathogenic variants in the gene. [ABSTRACT FROM AUTHOR]

Background: Following strabismus surgery, patients frequently develop variable degrees of postoperative nausea and vomiting (PONV). These symptoms cause discomfort and result in serious complications such as intramuscular bleeding and subconjunctival hemorrhage. In children long lasting PONV can lead to and electrolyte imbalance and dehydration. A prolonged course of recovery is the consequence. For the hospital, PONV can also involve negative economic impacts because of a damaged public reputation of the institution. There is still an ongoing debate on wether prophylaxis of PONV is necessary and how the prophylaxis of PONV should be performed. On one hand, there are proponents of a liberal prophylaxis. These intend to treat almost all patients regardless of their individual risk for PONV. On the other hand, opponents point out that every medication has to be indicated individually. In their view, risk scores should be the base of a risk-adapted approach.Objectives: The aim of the study was to reduce the frequency of PONV by using an anesthetic technique adapted to the individual risk for PONV. Until now, all trials studying the efficiency of a score-based antiemetic prophylaxis were performed on adult patients. In this study, a risk-adapted approach was evaluated on children for the first time.Patients and Methods: In 92 patients, the incidence of PONV was analyzed after strabismus surgery. Before surgery we evaluated the risk factors for PONV according to the POVOC score in children (n = 45, 49 %) and the Apfel's score in adults (n = 47, 51 %). Patients with 0-2 risk factors received a balanced anesthesia (n = 47, 51 %). Those with 3-4 risk factors were operated in total IV anesthesia (TIVA) with propofol (n = 45, 49 %). In addition, as an antiemetic prophylaxis, 0.15 mg/kg dexamethason and 0.1 mg/kg ondansetron were applied in the latter patients. we documented the symptoms and severity of PONV 2, 6 and 24 h after surgery by means of a standardized questionnaire for PONV (Wengritzky-Score).Results: The incidence of PONV was 17 % (n = 16) in all of the patients. The incidence in low-risk patients receiving a BA without prophylaxis were 21 % in adults and 38 % in children. Of the patients at high risk for PONV receiving the multimodal antiemetic approach 8 % (adults) and 9 % (children) suffered from PONV. The combination of TIVA and antiemetics could reduce the incidence of PONV compared to the predicted values in a clinically relevant manner (OR = 0.26, KI: 0.76-0.87).Conclusion: The overall incidence could be reduced to a level below 20 %. Particularly in patients with a high risk of PONV, TIVA could clearly reduce the incidence. However, the incidence in patients with 2 risk factors is still high (30-39 %). Therefore, it is important to reconsider the effort involved with risk screening and individually adapting anesthesia. Risk stratification means a pre- and perioperative effort. Therefore, we advocate a more liberal approach for PONV prophylaxis. [ABSTRACT FROM AUTHOR]

To assess the validity of neurosonological parameters (transorbital sonography (TOS)) for detection and monitoring of patients with idiopathic intracranial hypertension (IIH). Prospective, single-center, case-controlled study in 25 patients with IIH and 19 controls. Visual parameters of papilledema, visual acuity, computerized static threshold perimetry, fundus examination, and neurosonological parameters of papilledema/optic disc elevation (ODE), optic nerve sheath diameter (ONSD) and optic nerve diameter (OND) were recorded at baseline and only for patients with IIH again within 6 months. ONSD was significantly enlarged among individuals with IIH (6.2 ± 0.73 mm) compared to controls (4.99 ± 0.54 mm; p < 0.001). Bilateral ODE was found in 36/50 eyes in patients at their initial visit and in none of the controls. Re -evaluation 6 months later showed a significant reduction of ONSD (6.0 ± 0.7 mm; p = 0.024) and ODE (0.2 (0–1) mm; p ≤0.001). Best corrected visual acuity (BCVA) and square root of lost variance (sLV) remained stable. Headache intensity (Numeric rating scale, NRS) improved significantly p < 0.001. When compared to patients with first diagnosed IIH (n = 18), the subset of patients with preexisting IIH with acute relapse (n = 7) showed persistent but reduced levels of ICP increase. They also presented significant decrease of BVCA (p = 0.01) and mean defect (MD) (p = 0.012). Re -evaluation 6 months later showed significant change in ODE in both groups. Our study confirmed that TOS and ophthalmological parameters are a valuable and non-invasive method to detect and monitor elevated ICP in IIH. • Most patients with IIH displayed enlarged ONSD and papilledema. • The best cut-off value for predicting elevated ICP in IIH was 5.8 mm. • Sonographic and ophthalmological tools are reliable in the diagnosis and follow-up of IIH. [ABSTRACT FROM AUTHOR]