An oxidative disorder primarily represented by catalase upregulation was observed during the course of glaucoma.

Inherited retinal dystrophies (IRDs) are clinically and genetically highly heterogeneous, making clinical diagnosis difficult. The advances in high-throughput sequencing (ie, panel, exome and genome sequencing) have proven highly effective on defining the molecular basis of these disorders by identifying the underlying variants in the respective gene. Here we report two siblings affected by an IRD phenotype and a novel homozygous c.1691A>G (p.(Asp564Gly)) ATF6 (activating transcription factor 6A) missense substitution identified by whole exome sequencing analysis. The pathogenicity of the variant was confirmed by functional analyses done on patients' fibroblasts and on recombinant p.(Asp564Gly) protein. The ATF6 variant shows impaired production of the ATF6 cleaved transcriptional activator domain in response to endoplasmic reticulum stress. Detailed phenotypic examination revealed extinguished cone responses but also decreased rod responses together with the ability to discriminate some colours suggestive rather for cone-rod dystrophy than achromatopsia.

BackgroundOxidative stress contributes to both intraocular pressure regulation and glaucomatous neuropathy. The systemic redox status (solitary determination) was examined in primary open-angle glaucoma (POAG) patients with cataract and nonglaucomatous cataract patients. Cataract-matched group comparisons appear more precise in the context of oxidative stress evaluation. The aim of this study was to establish if systemic oxidative status in POAG patients was elevated compared with the cataract only subjects.MethodsThe study included patients with primary open angle glaucoma (POAG group, n = 30) and controls (non POAG group, n = 25). Serum concentration of lipofuscine (LPS), malondialdehyde (MDA) and activity of total superoxide dismutase (SOD), and its mitochondrial (Mn-SOD) and cystolic (Cu,Zn-SOD) isoform were measured. Total oxidant state (TOS) and total antioxidant capacity (TAC) in blood were also evaluated.ResultsSignificant increase of LPS (p = 0.0002) and MDA (p = 0.005) concentration was observed in glaucomatous patients as compared with controls. Total SOD activity was significantly lowered in the glaucoma group (p = 0.003); serum level of Mn-SOD was significantly lower in glaucoma patients (p = 0.048) however, Cu,Zn-SOD was not. Glaucoma patients presented elevated mean TOS (p = 0.016). Both groups presented with comparable TAC.ConclusionSystemic redox balance of cataract patients was significantly altered in the course of glaucoma.

PurposeThe aim of this report is to present a case of a patient, metal foundry worker, who had been exposed to industrial silver salts for over 20 years. It is well established that chronic exposure to silver compounds can cause accumulation of silver deposits in various tissues. This condition is referred to as argyrosis or argyria, whereas changes related to eye tissues are defined as ocular argyrosis.MethodsA complete eye examination, corneal confocal microscopy, kinetic and static visual field test, posterior segment optical coherent tomography, pattern visual evoked potentials (PVEP), flash visual evoked potentials, multifocal electroretinogram, pattern electroretinogram (PERG), full-field electroretinography (FERG) and electrooculogram were all performed.ResultsEye examination revealed decreased visual acuity, corneal deposits and drusenoid changes within the macula. Although electrophysiology tests did not show changes in the function of retinal pigment epithelium, they revealed abnormal function of photoreceptors in the central and peripheral retina. PERG abnormalities and delayed latency of P100 wave in PVEP confirmed impaired function of the inner layers of the retina in the macular region.ConclusionsCorneal confocal microscopy and electrophysiological tests may help confirm the diagnosis of ocular argyrosis.

The analysis of eye movements is valuable in both clinical work and research. One of the characteristic type of eye movements is saccade. The accurate detection of saccadic eye movements is the base for further processing of saccade parameters such as velocity, amplitude and duration. This paper concerns an accurate saccade detection method that is based on pre-processing signal and then the proposed non-linear detection function can be applied. The described method characterizes less sensitivity for any kind of noise due to an application of the robust myriad filter which is used to eliminate baseline drifts and impulsive artifacts. The congenital nystagmus is one of the field where our method can be applied to detect saccades. The proposed detection function is computationally efficient and precisely determines the time position of saccadic eye movements even when the signal-to-noise ratio is low. The presented method may have potential application in automatic ENG signal processing systems for determining visual acuity.