BackgroundChronic mucocutaneous candidiasis disease (CMCD) may result from various inborn errors of interleukin (IL)-17-mediated immunity. Twelve of the 13 causal mutations described to date affect the coiled-coil domain (CCD) of STAT1. Several mutations, including R274W in particular, are recurrent, but the underlying mechanism is unclear.ObjectiveTo investigate and describe nine patients with CMCD in Eastern and Central Europe, to assess the biochemical impact of STAT1 mutations, to determine cytokines in supernatants of Candida-exposed blood cells, to determine IL-17-producing T cell subsets and to determine STAT1 haplotypes in a family with the c.820C>T (R274W) mutation.ResultsThe novel c.537C>A (N179K) STAT1 mutation was gain-of-function (GOF) for γ-activated factor (GAF)-dependent cellular responses. In a Russian patient, the cause of CMCD was the newly identified c.854 A>G (Q285R) STAT1 mutation, which was also GOF for GAF-dependent responses. The c.1154C>T (T385M) mutation affecting the DNA-binding domain (DBD) resulted in a gain of STAT1 phosphorylation in a Ukrainian patient. Impaired Candida-induced IL-17A and IL-22 secretion by leucocytes and lower levels of intracellular IL-17 and IL-22 production by T cells were found in several patients. Haplotype studies indicated that the c.820C>T (R274W) mutation was recurrent due to a hotspot rather than a founder effect. Severe clinical phenotypes, including intracranial aneurysm, are presented.ConclusionsThe c.537C>A and c.854A>G mutations affecting the CCD and the c.1154C>T mutation affecting the DBD of STAT1 are GOF. The c.820C>T mutation of STAT1 in patients with CMCD is recurrent due to a hotspot. Patients carrying GOF mutations of STAT1 may develop multiple intracranial aneurysms by hitherto unknown mechanisms.

Purpose The purpose of this study was to describe the long-term results of AlphaCor implantations, and to evaluate the main complications and risk factors. Methods Retrospective analysis of preoperative and follow-up data from 15 AlphaCor implantations. Analysis of outcomes, trends, and associations was performed and compared with data from published clinical trials and a literature review.Results The survival rate of the device at 1, 2, and 3 years was 87%, 58%, and 42%, respectively. Postoperative visual acuity ranged from hand movement to 0.8. The most significant complications were stromal melt (nine cases), optic deposition (three eyes), and retroprosthetic membrane formation (three eyes). The most common device-unrelated complication was trauma (three patients). All complications were managed without loss of the eye. Conclusion AlphaCor provides a treatment option for patients with corneal blindness in which a donor tissue graft would not succeed.

Treatment of myopia with astigmatism using the SCHWIND AMARIS excimer laser is safe, efficacious, predictable, and maintains visual quality.

The SML is a new hope for low-vision patients. It acts as a magnifier in the eye. It is a suitable method for increasing near visual acuity in patients with inactive maculopathy.

By means of radioimmunoassay, the content of endogenous cortisol in the aqueous humour and plasma of 35 patients suffering from various types of glaucomas and 35 cataract patients was determined, and the ratio of the plasma to the aqueous humour cortisol levels was calculated. The highest cortisol level in both plasma and aqueous humour was found to occur in patients with open-angle glaucoma suffering at the same time from systemic hypertension. The lowest plasma to aqueous humour cortisol ratio was found in patients with secondary glaucoma treated with steroids. In woman suffering from open-angle glaucoma, the rising cortisol level in plasma with age contrasted to the decreasing cortisol level in aqueous humour. The authors suggest that there is an active interference with homeostatic mechanisms responsible for ensuring the stability of the eye inner milieu and a certain protection of the trabecular meshwork of the angle of the anterior eye chamber against noxious effects of the endogenous cortisol.