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Gyrate chorioretinal atrophy (GCA) is a rare hereditary disease with certain complications; one extremely rare complication of GCA is foveoschisis. For the first time in Russian ophthalmology, a 10-year-old female child has been described to have genetically verified GCA associated with the OAT gene in combination with ornithinemia and foveoschisis. The diagnosis was made on the basis of fundus examination, perimetry data, autofluorescence, optical coherence tomography, fluorescence angiography, electroretinography, mass spectrometry with confirmation by molecular genetic research. The presented clinical case illustrates the need for an interdisciplinary approach to the diagnosis of GCA with diagnostic algorithm involving various examination methods and doctors of different specialties.

The article describes a clinical case of a 14-year old patient with RDH5 mutations (OMIM *601617) in patient with fundus albipunctatus (OMIM #136880) and characteristic biomarkers of this disease with previously described pathogenic variant of nucleotic sequence in exon 3 of the RDH5 gene (NM_002905.3:c.500G>A), causing a missense change (p.Arg167His) in heterozygous state and previously not described pathogenic variant of nucleotic sequence in exon 5 of the RDH5 gene (NM_002905.3:c.838C>T), leading to a missense change (p.Arg280Cys) in heterozygous state with characteristic biomarkers of the disease. Best-corrected visual acuity (BCVA) was 20/20. Nyctalopia was accompanied by reduced b-wave of scotopic (dark-adapted 0.01) ERG and decreased amplitude of a- and b-waves of maximum (dark-adapted 3) ERG. Decreased amplitude of the a- and b-waves of photopic (light-adapted 3) ERG and the amplitude of high-frequency (light-adapted 30 Hz) Flicker ERG shows the involvement of retinal cone system in the process. Fundus autofluorescence imaging of both eyes produced fuzzy and grainy images with slight hyperfluorescence of retinal flecks. Optical coherence tomography showed focal thickening centered in the photoreceptor outer segment corresponding to the multiple discrete albipunctate dots.

The diisopropylammonium chloride (C 6 H 16 ClN, DIPAC) and diisopropylammonium bromide (C 6 H 16 BrN, DIPAB) molecular crystals are recently discovered ferroelectrics with sufficiently high spontaneous polarization and Curie temperature. We performed first studies of these crystals by 13 C NMR. CP MAS spectra were collected within large temperature ranges covering the Curie points. The reconstructive phase transition from the initial orthorhombic P2 1 2 1 2 1 structure of DIPAB to the monoclinic ferroelectric P2 1 structure leads to an abrupt alteration in the 13 C spectrum. The 13 C spectra for DIPAC and DIPAB in the ferroelectric P2 1 phase are quite similar with four lines at lower frequencies, which correspond to the CH 3 groups, and two lines with close chemical shifts, which correspond to two CH groups. The transition into the paraphase leads to gradual reduction of the interline distances in the low-frequency quadruplet and in the doublet. The step-like changes in the interline frequency shifts at this transition indicating its first order. The analysis of the spectrum evolution in the paraphase shows that only a CH group lays in the reflection plane above the P2 1   →  P2 1 /m transition, while the second CH group only moves closer to the reflection plane upon further heating.

The study presents experimental results for investigating linear and nonlinear dielectric properties of nanocomposites based on bromide diisopropylammonium (C 6 H 16 NBr, DIPAB) and aluminum oxide films (Al 2 O 3 ) with pore diameter of 330, 100 and 60 nm. It was indicated that the phase transition was blurred and shifted toward lower temperatures. This anomaly became more significant with decreasing pore size. The reduction of phase transition temperature in the nanocomposites, containing DIPAB, was consistent with theoretical models for the influence of size effects on the structural phase transition.

Purpose: To assess the changes in photoreceptor retinal layers and the choroid in comparison with bioelectrical activity of the macula in patients with retinitis pigmentosa (RP)., Material and Methods: The study included 10 patients (20 phakic eyes) with RP. Mean age was 27±18.5 years; mean best corrected visual acuity was 0.38±0.22. In addition to standard ophthalmological examination and fundus photography, each patient underwent an electrophysiological study on an electroretinograph MBN (Russia) recording general electroretinogram (ERG), maximal ERG (cone-rod response), 30 Hz flicker ERG and macular ERG (mERG). Choroidal thickness (CT) measurement and segmentation of the retina with following calculation of the thickness of different retinal layers was performed on SD-OCT RS-3000 Advance 'Nidek', Japan), it included obtainment of the 6-mm-diameter map in accordance with the Early Treatment Diabetic Retinopathy Study (ETDRS)., Results: The study revealed a decrease in thickness of the choroid, retina, and the photoreceptor layers: 1) the layer with photoreceptor outer segment (OS) and retinal pigment epithelium (RPE) and 2) the layer with photoreceptor inner segment (IS) and outer nuclear layer. Decreased thickness of these layers is associated with the reduction of bioelectric activity of the macula as seen with mERG., Conclusion: Decreased thickness of the retina, choroid and photoreceptor layers in all segments of the macula according to EDTRS standards is associated with reduced bioelectric activity of the macula recorded with mERG.

ABCA4-associated mutation screening is extensively performed in European, African, American and several other populations for various retinopathies. However, it has not been well studied in a Russian cohort. Using next-generation (325 genes inherited disease panel) and Sanger sequencing technologies for the first time we documented the spectrum of genetic variations in a Russian retinopathy cohort of 51 patients from 10 ethnic groups. We found ABCA4 variations in 70.5% cases and one case with BEST1 variation. Multiple ABCA4 variations, ABCA4 + RDH12, and ABCA4 + BEST1 variations are also observed and the disease severity is found proportionate to the variation burden. Ten novel ABCA4 variations are detected of which 8 belongs to non-Slavonian population. Most of the detected known variations are found in European and American Stargardt disease populations. No retinopathy causing variation is detected in 14 (27%) cases suggesting that in this Russian retinopathies cohort the causal variants could be in genes that are not covered by our 325 gene panel. Therefore, whole genome/exome analysis is required to identify novel retinopathy associated genes and provide better disease management for this heterogeneous cohort., (Copyright © 2016 Elsevier Masson SAS. All rights reserved.)

Complicated high myopia is one of the leading causes responsible for the disablement in the children associated with visual impairment especially when it is combined with other pathological conditions and abnormalities among which are disorders of the musculoskeletal system. In the present study, we for the first time examined visually impaired schoolchildren (n=44) who suffered from high myopia complications making use of the computed optical topographer for the evaluation of the state of their vertebral column. The control group consisted of 60 children attending a secondary school. The study revealed various deformations of the musculoskeletal system including scoliosis, misalignment of the pelvis, kyphosis, hyperlordosis, torsion, platypodia, deformation of the lower extremities and the chest. These deformations were more pronounced in the visually impaired schoolchildren in comparison with the children of the same age comprising the control group (p<0,05). It is concluded that the assessment of the state of the vertebral column with the use of the apparatus yields an important information for the elaboration and application of a series of measures for the timely provision of medical assistance needed for the comprehensive rehabilitation of the visually impaired schoolchildren presenting with high myopia complications.

Aim: to investigate correlations between changes in ocular hemodynamics revealed by color Doppler flow mapping (CDFM) and pulsed-wave (PW) Doppler imaging, one the one hand, and electrical activity of the retina, on the other, in patients with early, moderate, and severe retinitis pigmentosa (RP)., Material and Methods: A total of 20 patients (40 eyes) aged from 16 to 40 years (28.4 ± 8.2 years on average) with retinitis pigmentosa were enrolled. The control group consisted of 20 healthy volunteers of the same age range. All participants underwent full-field electroretinography (ERG), flicker ERG, and macular ERG as well as blood flow assessment in the ophthalmic artery (OA), central retinal artery (CRA), and short posterior ciliary arteries (SPCA) by means of CDFM and PW-Doppler., Results: Ocular blood flow in CRA and SPCA appeared disturbed in patients with early RP. In cases of moderate and severe RP, the peak systolic velocity of CRA and SPCA blood flow was significantly decreased. Systolic and end diastolic blood flow velocities in CRA and SPCA has been shown to be directly related to full-field ERG a-wave and b-wave amplitudes, correspondingly, but negatively correlated with their implicit times., Conclusion: The revealed decrease in CRA and SPCA blood flow indices proves retinal and choroidal circulation deficit in patients with advanced RP. As shown, moderate blood flow changes are already present in early RP and progress as retinal photoreceptors and bipolar cells become suppressed, which may be useful for RP diagnosis and monitoring.

The authors performed clinical and immunological evaluation of efficacy of treatment of patients with occupational chronic bronchitis (CB) working in contact with pneumotropic pollutants, including airway irritants and dusts. The complex therapy included an immune-correcting agent of bacterial origin, ribomunyl. The indicators to the drug administration were remission or moderate manifestations of the disease with disturbances of mucosal immunity, both isolated (imbalance of IgA, IgG and salivary lysozyme) or combined with systemic immunity disorder (decrease of neutrophilic phagocyte activity, serum IgM and IgG, and the number of T-lymphocytes). The course lasted 3 weeks; the regimen was standard: 3 tablets in the morning before meals 4 days a week. During the whole period of immune correction the patients were under clinical observation; respiratoryfunctions (RF), bronchial hyperactivity, and immune status were evaluated prior to and after the treatment. After the treatment with ribomunyl most patients displayed improvement of the symptoms and FF parameters. The study found significant improvement of a range of immunological parameters: reduction of the imbalance of salivary protective factors, elevation of the phagocyte activity of peripheral blood neutrophils, and a tendency towards increase of IgG and blood T-lymphocyte levels. The results show that clinical, functional and immune parameters normalized simultaneously, with the most evident matching in salivary immunity. The authors conclude that ribomunyl is efficient in treatment of occupational CB when administered with taking individual disturbances of mucosal and systemic immunity into account.

Visual field losses and changes of the optic nerve disk are signs of optic neuropathy in glaucoma; psychophysical and electrophysiological tests can contribute to an early detection of glaucomatous optic neuropathy. Electrophysiological methods, like pattern electroretinogram (PERG) and visual induced cortical potentials can be useful in the diagnosis of glaucoma since they are compatible with the functions of retinal ganglion cells. A combination of psychophysical and electrophysiological examination methods contribute to an early diagnosis of glaucoma because they make it possible to study different aspects of visual functions. The results of psychophysical tests correlate to a greater extent than electrophysiological tests with defects in visual fields. Temporal, temporal-and-spatial contrast sensitivity and visual induced cortical potentials, whose changes are detected in the "preperimetric" stage of glaucoma, are the most sensitive parameters, while PERG changes later. Both the color contrast and light PERGs reduce in glaucoma. However, a significant correlation was detected only between the reduction of the color contrast PERG and visual field defects. A reduced sensitivity of dark and color channels of the retinal cone systems was also registered. Defects of color sensitivity are more pronounced and they precede the onset of light sensitivity changes. Defects of color and contrast sensitivity are an early sign of the progressing of optic neuropathy in glaucoma.

Studies of mortality among 3588 workers who contacted variable doses of methylmetacrilate (MMA) revealed that higher intensity of the exposure led to increased risk of death with lung and colon cancer. Immune state studies in 157 workers proved significant immune disorders due to MMA levels several times exceeding the MAC. Experiments evaluating immune functions under exposure to MMA levels equal to or under the MAC demonstrated mostly adaptational changes.

New data on the function of the retinal cone system in glaucoma are presented, which extend the symptom complex of optic neuropathy of glaucoma origin and the potentialities of initial diagnosis of glaucoma. A new symptom is detected: disordered topography of color (red and green) sensitivity, which can serve as the early symptom of glaucomatous optic neuropathy and indicate the degree of its progress. The location of the process, detected in examination of color sensitivity topography, is more extensive than it is detected by static perimetry. Primary location of functional disorders is detected in the parafoveal area and the disorders are the more severe the further from the center during the initial stage of glaucoma. As the process progresses, the central zones are involved in it.

Individuals working in atmosphere of relatively medium (up to 3 MACs) levels of irritant gases demonstrate 1.7 times higher incidence of chronic bronchitis vs. general population does. Chronic bronchitis in these cases is often preceded by moderate bronchial obstruction. The contact with irritant gases is accompanied by immunity changes.

Experimental and clinical investigations to evaluate immunity, lipid peroxidation (LPO), and antioxidative defense (AOD) under the action of tolylene diisocyanate at the level of MAC and 10 MAC were conducted for further studies of the agent's pathogenetic mechanisms. The experimental investigations showed the predominant activation of cellular and humoral immunities, as well as the suppression of nonspecific defence at 10 MAC, enhanced LPO, and phasic changes in AOD. Most profound immunological changes were observed in those having as long as 5 years of length of service.

The relation of the incidence of malignant neoplasms to the dose of methyl methacrylate (MMA) was studied in 3588 workers. There was a clear correlation between the dose of MMA and the risk for cancer of the genital system in females and of the lung in males. Examining the immunity in groups receiving different doses of MMA revealed significant immunological disorders when exposed to its high concentrations.

The authors compared main immune parameters in workers contacting various occupational hazards. The studies revealed that actual hazards induced variable associations of disorders in cellular, humoral immunity, nonspecific protective factors, local immunity of saliva and allergic reactivity.

The article presents results of immunologic studies in 111 vibration disease sufferers with variable exposure, age, sex and severity of disease. The examinees were proved to have depressed cellular immunity--lower E-RFC count with decreased number of active E-RFC and levamisole--correctable modifications of T-cells; inhibited humoral immunity--lower levels of IgM, IgG, IgA; contradictory changes of neutrophils functions--depressed phagocytosis and metabolic activity with pronounced rosette formation; halted immune factors of saliva.

The authors studied immunologic features of saliva in 1714 workers exposed to vibration and other occupational hazards in microbiologic, chemical enterprises. The examinees demonstrated lower activity of lysozyme and concentrations of IgA, higher levels of IgG. Immunologic features of saliva was proved to have extreme diagnostic importance, therefore could be used to detect early signs of exposure to occupational hazards and to diagnose pathologic conditions caused by those hazards.

The clinical and immunologic study involving a complex of immunologic parameters covered 52 workers of yeasting hydrolysis production. The results are--depression of cellular immunity with modified T-cellular membranes; inhibited phagocytic activity of neutrophils and increased expression of E-receptors; disbalanced saliva immune factors; sensibilization to fungus producing hydrolysis yeast. The study revealed immune features varying with degree of exposure to the occupational materials, with length of service and health state of the examinees. Those features could be valuable for arrangement of prophylactic measures.