[Features of genetic mutations in children with high myopia combined with peripheral retinal degenerations]. / Osobennosti mutatsii v genakh u detei s vysokoi blizorukost'yu, sochetayushcheisya s perifericheskimi vitreokhorioretinal'nymi distrofiyami.

Degenerative changes in the peripheral regions of the ocular fundus allow a closer look at both the role of collagen genes and their mutations in children with high myopia. PURPOSE: The study investigates the features of genetic mutations in children with high myopia combined with peripheral retinal degenerations. MATERIAL AND METHODS: Study group was formed from the database of genetic studies of the Scientific and Clinical Center OOO Oftalmic, which consists of 4362 patients referred for medical genetic counseling and molecular genetic testing from 2016 to 2021. Selection criteria were: male and female patients, aged 5-18 years old, who had the following clinical signs: high myopia (>6.00 D) and the presence of peripheral retinal degenerations (PRD). The study considered both isolated cases of ophthalmic pathology, as well as its syndromic forms. The final selection included 40 children. All patients had consulted with a geneticist. Whole-exome sequencing (WES), next generation sequencing (NGS), and single gene sequencing were conducted by taking 5 mL of peripheral venous blood and extracting deoxyribonucleic acid (DNA). RESULTS: In patients with isolated cases of ophthalmic pathology (peripheral retinal degenerations and high myopia) with a confirmed genetic diagnosis, mutations in the COL2A1 gene were detected in 77.4% of cases, and in the COL11A1 gene - in 22.6% of cases. In Stickler syndrome with a confirmed genetic diagnosis, mutations in the COL2A1 gene were detected in 33.3% of cases. In Marshall syndrome, the mutation in the COL11A1 gene was detected in 11.1% of cases. In children with Ehlers-Danlos, Knobloch type 1, Cohen, Marfan, Wagner syndromes mutations in the genes COL5A1, COL18A1, VPS13B, FBN1, VCAN were detected in 55.6% of cases. In 33.3% of cases of Knobloch type 1, Cohen, Wagner syndromes the mutation is found in both copies of the gene (i.e., in both chromosomes), which leads to the development of peripheral retinal degenerations with high myopia. CONCLUSION: The results of the conducted molecular genetic testing expand our understanding of the mutation spectrum in the genes of children with both isolated cases of ophthalmic pathology, as well as syndromic pathology.

Study of microcirculation of the ocular ciliary body in experimental kidney disease.

We studied disorders in ciliary body microcirculation in experimental chronic glomerulonephritis with tubulointerstitial nephritis and evaluated the hemodynamic effects of low-frequency pulsed electromagnetic field in this pathology. Laser Doppler flowmetry demonstrated vasospasm with reduced nutrient blood fl ow in the ciliary body of animals with experimental chronic glomerulonephritis with tubulointerstitial nephritis. The exposure to low-frequency pulsed electromagnetic field using developed technology will lead to significant reduction of the vascular tone and improve arterial blood supply to the microcirculatory bed.

[Characteristics of the autonomic nervous system state in children with myopia associated with undifferentiated connective tissue dysplasia].

Autonomic nervous system disorders occur in 100% cases in patients with connective tissue dysplasia. Biomechanism of accommodation and autonomic innervation of ciliary body was not investigated clearly and presented as area of further research. The goal of the study was to evaluate features of autonomic nervous system in patients with myopia associated with connective tissue dysplasia. 50 children with myopia associated with connective tissue dysplasia went through ophtholmological examination. To evaluate function of autonomic nervous system all patients were observed with the machine "Valenta" which has ECG recording. As a result we found that children with myopia and connective tissue dysplasia have unsatisfactory adaptive reserves with imbalance of sympathetic and parasympathetic input, autonomic nervous system wasn't available to provide homeostasis in demanding level. We hypothesized that autonomic nervous system might be a reason which lead to disorders in process of accommodation during myopia and assist its progressing.

Changes in the retina in induced hypoestrogenia (according to optical coherent tomography data).

Ultrastructural changes in the retina under conditions of experimental hypoestrogenia were studied. Hypoestrogenic status was induced in female rabbits by extirpation of both uterine horns with appendages. Clinical status of the eyes was evaluated after 9 months by ophthalmoscopy and optical coherent tomography. Changes in the retinal layers under conditions of experimental estrogenia were detected: thickened retinal pigmented epithelium layer, a lesser layer of nerve fibrils, and thinning of the choriocapillary layer. A relationship between thinning of the choroid and thickening of the pigmented epithelium of the retina was detected.

[Ultrastructural features of vascular iridociliary system after biopuncture by antihomotoxic medicine].

OBJECTIVE: To reveal ultrastructural features of iridociliary vessels after biopuncture with antihomotoxic medicine. METHODS: Myopia model was created on 10 rabbits by injecting all trans-retinoic acid in catheter Vasofix Certo 24G in left internal carotid artery until we got low myopia. After six months of daily injections all rabbits had myopia from -2,0 to 3,0 D. Animals were separated into two groups: 5 rabbits with daily intradermal injection in three points of upper eye lid without medicine during 10 days and 5 rabbits with daily intradermal injection in three points of upper eye lid with Cerebrum Compositum N during 10 days. Morphology of iridociliary system was explored. RESULTS: Biopuncture in myopia model increases level of metabolic reactions in iridociliary system, supplies adaptive reserves by the hemodynamic enrichment of ciliary body vessels and balance of autonomic nervous system impulsation.

[Accommodation examination in myopia associated with nondifferentiated connective tissue dysplasia].

Features of accommodative response in children with myopia associated with nondifferentiated connective tissue dysplasia (NCTD) were studied using computered accommodography. A variety of accommodative response patterns were found in myopia associated with NCTD, that is indicative of a great functional potential of ciliary muscle. Theoretic side is discussed for normal accommodative response and for muscle fibers hyperfunction as well.

[Information-wave technologies: rationale and guidelines for their use in pediatrics].

The mechanisms of action of information-wave technologies on human beings are analyzed in detail and their use in pediatrics is substantiated. The approach using a now-frequency pulse electromagnetic field as an information factor is optimal due to the synchronization of an oscillatory process of a low-frequency pulse electromagnetic field and the rhythm of functioning of different systems of the body, which causes the bioresonance actions the function of an organ or a system.

A new genetic variant of mdx mice: study of the phenotype.

Genetic selection in a colony of mdx mice (suffering from X-chromosome-linked muscular dystrophy) resulted in generation of their new genetic variant. In this new variant, the genetic, biochemical, and histological markers of muscular dystrophy are combined with signs of oculocutaneous albinism (skin and fur depigmentation), transillumination of the iris, sharply reduced pigmentation of the retinal epithelium, and increase of the eyeball refraction). Two sensorimotor tests (negative geotaxis and wire back down hanging) detected other phenotypical characteristics of albino mdx mice carrying, in addition to the mutation in the dystrophin gene exon 23 (intrinsic of the "classical" black mdx mice), an extra mutation responsible for pigmentation disorders. Slow geotaxis, despite longer wire back down hanging capacity, was regarded as aggravation of the neurological dysfunction in albino mdx mice in comparison with black mdx mice.

[To the treatment of progressive myopia in children].

The paper deals with a new treatment technology for childhood progressive myopia concurrent with chronic diseases. The technology of vision preservation in children of a general educational establishment includes complex phytotherapeutic exposure and infrasound pneumomassage of eyeball tissues. Infrasound ocular pneumomassage at a pressure of 0.1 atm, with a frequency of 4 Hz, and an infrasound power of 170 dB improves muscle accommodation function, blood circulation and lowers intraocular pressure. The developed complex technology contributes to a reduction in the incidence of exacerbations of chronic diseases and exerts a beneficial effect on the course of myopia in children.

[Possibilities of using of transpalpebral acoustic tonometry in pediatric ophthalmology].

A new approach to transpalpebral assessment of intraocular pressure (IOP) was developed, by using a model of its graded elevation, in which natural anatomic and topographic relationships were not impaired in the fundus of the eye and by studying the biomechanical regularities of tension distribution in the ocular accessory apparatus when IOP was altered. An objective biomechanical criterion was proposed for measuring IOP. The capacities of transpalpebral acoustic tonometry were assessed in children with ocular injuries and congenital glaucoma in the clinic. There is evidence for that it is expedient to use the developed criterion for estimating IOP when the latter cannot be measured by traditional methods and for evaluating the efficiency of the treatment performed. The advantages and disadvantages of transpalpebral acoustic tonometry are described.

[Experience of clinical use infrasound pneumomassage in the treatment of progressive myopia in schoolchildren]. / Opyt klinicheskogo primeneniia infrazvukovogo pnevmomassazha v lechenii progressiruiushcheí blizorukosti u deteí shkol'nogo vozrasta.

Infrasound pneumomassage at a frequency of 4 Hz, duty factor 0.5, and amplitude 0.1 kg/cm, 10-min exposures for 10 days, stabilized the course of progressive myopia, as shown by examinations 3 years after treatment. The most expressed changes were observed in various portions of the vascular membrane.

[Biomechanical regularities in the distribution of tension in various topographic zones of the eyelids in children in health and myopia of different degree]. / Biomekhanicheskie zakonomernosti raspredeleniia napriazhenii v razlichnykh topograficheskikh zonakh vek u detei v norme i s razlichnoi velichinoi blizorukosti.

The authors assessed the method for life-time study of the biomechanical characteristics of ocular tissues in 281 children (562 eyes) aged 7 to 14 years. The method for assessing the biomechanics of the eyelids is described. In detail. The rates of propagation of acoustic waves in normal tissue and in 1.0 to 6.0 diopters myopia are presented. A correlation has been revealed between the increase of the velocity of acoustic surface waves, propagating in the horizontal direction in the internal segment of the orbital area of the upper eyelids, and the value of clinical refraction in myopia. The authors consider clinical signs of myopia-screwing up one's eyes and a wider lid slit-from a biomechanical viewpoint.

[Experimental study of morphologic changes in ocular tissue structures after exposure to infrasound pneumomassage]. / Morfologicheskie izmeneniia struktur tkanei glaza posle vozdeistviia infrazvukovogo pnevmomassazha v eksperimente.

Morphologic study of various structures of ocular tissues after exposure to infrasound massage at 4 Hz frequency, depth 0.5, and amplitude of 0.1 kg/cm2, 10 min per session, for 5 and 10 days, revealed no detrimental effects of the exposure on ocular tissues. The most expressed changes were observed in various segments of the vascular coating.

[Method of in vivo assessment of biomechanical properties of eye tissues (an experimental study)]. / Metod prizhiznennoi otsenki biomekhanicheskikh svoistv tkanei glaza (éksperimental'noe issledovanie).

The authors assess the acoustic method for investigation of the biomechanical properties of ocular tissues. Relationship between the rate of propagation of acoustic surface waves and different physical conditions and relations with the scleral structure were studied on specially designed models. The detected regularities permit the authors recommend the method of life time assessment of biomechanical properties for clinical ophthalmology as an additional diagnostic method for objective assessment of the elastic properties of ocular tissues.

[Causes of insufficient effectiveness of collagen plasty (an experimental study)]. / O prichinakh nedostatochnoi éffektivnosti kollagenoplastiki (éksperimental'noe issledovanie).

Morphological and biomechanical features of the sclera after collagen plasty were studied in 90 eyes of 45 chinchilla rabbits. A reduction of the viscous elastic properties of the sclera 1 month after surgery was revealed, not described previously. The data on the changed mechanical characteristics of the sclera following collagen plasty are confirmed by the results of optic and electron microscopy; these data permit us to propose that the sclera in the immediate postoperative period (less than 1 month after the operation) represents a somewhat chaotic structure at the stage of active restructuring. Rational postoperative management of patients after collagen plasty is recommended.

[The treatment of retinal detachment in children]. / O lechenii otsloiki setchatki u detei.

The authors analyze the errors in the treatment of detachment of the retina in children. The errors were found not only in the surgical policy, but in the management of the pre- and postoperative period as well. They suggest rational methods for the pre- and postoperative management of patients with detachment of the retina and adequate schemes of surgical treatment.