BackgroundAxenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic features. The discovery of causative genes identified ARS subtypes with distinct phenotypes, but our understanding is incomplete, complicated by the rarity of the condition.MethodsGenetic and phenotypic characterisation of the largest reported ARS cohort through comprehensive genetic and clinical data analyses.Results128 individuals with causative variants in PITX2 or FOXC1, including 81 new cases, were investigated. Ocular anomalies showed significant overlap but with broader variability and earlier onset of glaucoma for FOXC1-related ARS. Systemic anomalies were seen in all individuals with PITX2-related ARS and the majority of those with FOXC1-related ARS. PITX2-related ARS demonstrated typical umbilical anomalies and dental microdontia/hypodontia/oligodontia, along with a novel high rate of Meckel diverticulum. FOXC1-related ARS exhibited characteristic hearing loss and congenital heart defects as well as previously unrecognised phenotypes of dental enamel hypoplasia and/or crowding, a range of skeletal and joint anomalies, hypotonia/early delay and feeding disorders with structural oesophageal anomalies in some. Brain imaging revealed highly penetrant white matter hyperintensities, colpocephaly/ventriculomegaly and frequent arachnoid cysts. The expanded phenotype of FOXC1-related ARS identified here was found to fully overlap features of De Hauwere syndrome. The results were used to generate gene-specific management plans for the two types of ARS.ConclusionSince clinical features of ARS vary significantly based on the affected gene, it is critical that families are provided with a gene-specific diagnosis, PITX2-related ARS or FOXC1-related ARS. De Hauwere syndrome is proposed to be a FOXC1opathy.

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According to our results, amniotic membrane has antifibrotic effect but no anti-inflammatory effect in rabbit eyes due to possible xenograft reaction to human tissues. It is effective in prevention of adhesion formation with possible physical barrier action.

Background: Although alterations in the peripapillary retinal nerve fiber layer (RNFL) in patients with idiopathic intracranial hypertension (IIH) have been characterized using optical coherence tomography (OCT), there are little data regarding the peripapillary vasculature in this patient population. Our aim was to evaluate findings of OCT angiography (OCT-A) in the peripapillary region in addition to the RNFL measurements on OCT in patients with IIH. Methods: Thirty-eight eyes of 19 patients with IIH and 42 eyes of 21 healthy controls were enrolled in our study. Papilledema was graded according to the Frisen scale. Peripapillary RNFL and vessel density were evaluated with OCT and OCT-A, respectively. Results: RNFL thickness was found to be increased with OCT, but this was statistically significant only in the inferior location in IIH patients when compared with the control group. There was a significant decrease in mean peripapillary vessel density measured with OCT-A in IIH patients with papilledema when compared with the control group (P < 0.05). Conclusions: In patients with IIH, there was a decrease in peripapillary vessel density measured by OCT-A, and this decrease may be a consequence of the swelling of axons in the peripapillary retina due to papilledema. However, autoregulatory vascular mechanisms may also play a role in decreased peripapillary vessel density.

Even a short period of exposure of intra-cameral lidocaine to the ocular tissues can induce histo-logical changes that may result in functional defects.

According to our results, uveitis in Behçet's disease is associated with significant reductions of CRA and PCA flow velocities when compared with other types of uveitis and healthy subjects. In cases without ocular involvement, CRA flow velocities were lower than the control group, but there were no real differences in the PCA and OA values. This suggests that vasculitic involvement of PCA is more specific to Behçet's disease and occurs later in the course of the disease. The results also suggest that it may be possible to detect and follow hemodynamic changes in Behçet's disease with CDI before clinical findings of ocular involvement become evident.