Natalia Sheremet

Research Institute of Eye Diseases | ФГБНУ "НИИГБ" · Department of clinical investigation in ophthalmology

Актуальность.Схожесть клинических проявлений передней ишемической оптической нейропатии (ПИОН) и изолированного оптического неврита (ОН) может вызывать трудности дифференциальной диагностики в остром периоде заболевания. Изучение особенностей микроциркуляторного русла зоны диска зрительного нерва (ДЗН) могут служить дополнительными критериями диффе...

Актуальность. Демиелинизирующий оптический неврит (ОН) в рамках рассеянного склероза (РС, РС-ОН) является наиболее изученным. Открытие антител к аквапорину-4 (AQP4) и к миелинолигодендроцитарному гликопротеину (MOG) определило существование двух заболеваний с фенотипами в виде ОН: заболевание спектра оптиконейромиелита (ЗСОНМ, AQP-ОН) и заболевание...

Актуальность. Пигментный ретинит (ПР) — наследственное заболевание, обусловленное различными генетическими мутациями. Прогнозирование динамики зрительных функций при ПР важно для обоснованного информирования пациентов относительно дальнейшего течения заболевания, выбора тактики лечения. Цель.Оценить возможности мультифокальной электроретинографии (...

Актуальность.Наследственная оптическая нейропатия Лебера (НОНЛ) и аутосомнорецессивная оптическая нейропатия (АРОН) характеризуется выраженным снижением остроты зрения (ОЗ) в результате развития частичной атрофии зрительных нервов. Однако в отдаленном периоде возможно улучшение ОЗ, степень которого зависит от сохранности перипапиллярного слоя нервн...

The discovery of antibodies against aquaporin-4 (AQP4) and against myelinoligodendrocyte glycoprotein (MOG) confirmed the existence of two disease entities distinct from multiple sclerosis (MS) — neuromyelitis optica spectrum disorders (NMOSD) and myelinoligodendrocyte glycoprotein-associated disease (MOGAD). Demyelinating optic neuritis (ON) can b...

Despite the wide range of clinical, instrumental and laboratory methods used in modern ophthalmology, the problem of diagnosing optic neuropathy and identifying its etiology remains relevant. A complex multidisciplinary approach involving various specialists is required in the differential diagnosis of immune-mediated optic neuritis, for example in...

Demyelinating optic neuritis and hereditary optic neuropathy (HON) take a leading place among the diseases, the leading clinical syndrome of which is bilateral optic neuropathy with a simultaneous or sequential significant decrease in visual acuity. Optic neuritis can occur at the onset or be one of the syndromes within multiple sclerosis (MS), neu...

Antibodies to myelin-oligodendrocyte glycoprotein (anti-MOG-IgG) is a specific biomarker that has been detected in peripheral blood from children with acute multiple encephalomyelitis (ADEM) as well as in adults with aquaporin-4 (AQP4), associated with seronegative opticoneuromyelitis spectrum disease (NMOSD), brainstem encephalitis, longitudinally...

The recent description of biallelic DNAJC30 variants in Leber hereditary optic neuropathy (LHON) and Leigh syndrome (LS) challenged the longstanding assumption for LHON to be exclusively maternally inherited and broadened the genetic spectrum of LS, the most frequent paediatric mitochondrial disease. Herein, we characterise 28 so far unreported ind...

Purpose: To study the capabilities of electrophysiological and psychophysical examination methods for assessment of the functional state of ganglion cells, retina and optic nerve in patients with hereditary optic neuropathy (HON). Material and methods: The study included 60 patients (118 eyes) with a genetically confirmed diagnosis of HON. All s...

This review of literature presents an assessment of circulatory disorders of the optic nerve and the retina in patients with optic neuropathy of different origin by ultrasound and OCTA methods, outlines basic principles of analyzing the state of blood flow in the ocular vessels, and analyzes the results of Russian and foreign research on this topic...

Folate metabolism disorders are known to have a potential involvement in the pathophysiology of mitochondrial diseases. Many researchers suggest that profound systemic folate deficiency may contribute to mitochondrial folate deficiency. Folic acid metabolism is closely related to vitamin B12 and homocysteine. Considering that hereditary optic neuro...

Leber's hereditary optic neuropathy (LHON) is caused by primary mtDNA by both primary mtDNA mutations and new mtDNA mutations. The last ones, when detected in several independent LHON families, receive candidate status. The description of new LHON-associated mtDNA mutation is relevant. Purpose: To determine the LHON clinical features in patients...

The most common complication of hemodialysis is blood pressure decrease, which is an ischemic optic neuropathy risk factor. The article presents a case study of sequential bilateral ischemic optic neuropathy with the development of amaurosis as a result of arterial hypotension against the background of programmed hemodialysis. Differential diagnosi...

Unlabelled: Retinitis pigmentosa (RP) is an inherited disease associated with various genetic mutations. Developments in the field of genetic engineering give relevance to the search for methods of studying retinal function, which can prove informative in the selection of patients for treatment. Purpose: To evaluate the information content of mu...

Hereditary optic neuropathies (HON) - a group of neurodegenerative diseases characterized by primary loss of structure and function of the retinal ganglion cells and subsequent death of their axons, development of partial optic nerve atrophy. Autosomal dominant optic neuropathy and Leber`s hereditary optic neuropathy until recently were considered...

Leber’s hereditary optic neuropathy (LHON) is a maternal inherited mitochondrial disease characterized by bilateral vision loss in working age population. Although this pathology affects the retinal ganglion cells, the main manifestation of the disease is visual loss, the disease in some cases can occur as LHON+ with additional neurological and car...

The role of mitophagy in hereditary optic neuropathies is considering in this review. Mitochondria are intracellular double membrane organelles. They are one of the main components of all eukaryotic cells, they perform many different functions in the cell. However, the main function of mitochondria is to supply cells with energy in the form of ATP....

Purpose. To assess the retinal ganglion cells function in patients with Leber's hereditary optic neuropathy (LHON) by registering the photopic negative response (PhNR) while the photopic electroretinography is performed. Material and methods. 14 patients with different LHON mutations and 9 healthy individuals were examined. A standard ophtalmologic...

Leber’s hereditary optic neuropathy (LHON) is the most frequent mitochondrial disease and was the first to be genetically defined by a point mutation in the mitochondrial DNA (mtDNA). A molecular diagnosis is reached in up to 95%, the vast majority of which are accounted for by three mutations within mitochondrial complex I (CI) subunit encoding ge...

Purpose: To simulate the damaging effect on retinal pigment epithelium (RPE) in an experiment studying the effect of human neuronal precursors (NPs). Material and methods: The study was carried out on 31 rabbits (31 eyes) of the Chinchilla breed, which were divided into 3 groups: the 1st group received a subretinal injection of balanced saline s...

The clinical and genetic characteristics of ABCA4-associated inherited retinal diseases have been studied for more than 2 decades, since the identification of the ABCA4 protein in 1978 and the ABCA4 gene in 1997. ABCA4 mutations were initially associated with autosomal recessive Stargardt disease (STGD1). It has now been established that mutations...

The study analyses data from clinical and genetic examination of 114 patients, as well as examination of cytological skin fibroblasts of 20 patients with hereditary optic neuropathy (HON). The clinical examination revealed HON symptoms in all study patients, primary damage of the retinal ganglion cells accompanied by swelling of the peripapillary r...

Unilateral pigmentary retinopathy (PR) is a rare, atypical form of hereditary retinal pathology. Different types of secondary retinopathy associated with various non-hereditary diseases, trauma or intoxication can imitate unilateral PR. Therefore, it is important to determine the cause of visual disorders and differentiate between unilateral and as...

The article presents a clinical case of poppers-associated maculopathy - a maculopathy of toxic genesis, insufficiently represented in Russian scientific literature. The diagnosis was based on anamnestic data (long-term use of poppers), specific structural disorders of the outer layers of the retina in the foveolar zone according to spectral optica...

Purpose. To evaluate the clinical features of inherited retinal diseases (IRDs) in patients with rare mutations in the ABCA4 gene. Material and methods. 43 patients affected of IRDs with rare ABCA4 gene mutations underwent an ophthalmic examination, a high-performance parallel sequencing of coding sequences and an adjacent sections of the ABCA4 ge...

Stargardt disease is a hereditary retinal dystrophy associated with mutations in the ABCA4 gene. Currently, no etiopathogenetic drugs nor treatment methods for Stargardt disease have completely passed clinical trials. The review summarizes experimental and clinical studies of drugs aimed at reducing the accumulation of vitamin A dimers, lipofuscin,...

Purpose: To identify the specifics of structural and functional changes in patients with toxic optical neuropathy caused by acute methanol poisoning. Material and methods: One female patient with toxic optic neuropathy (TON), 2 male patients with partial optic atrophy caused by methanol poisoning, and 1 male patient with methanol intoxication af...

Purpose: To evaluate the relationship between the morphological and functional parameters of retinal pigment epithelium (RPE) and photoreceptors (PR) in inherited retinal diseases (IRD). Material and methods: The study included 52 patients (104 eyes), 23 of them with Stargardt Disease (STGD), 19 with cone-rod dystrophy (CRD), 10 with retinitis p...

Purpose: To investigate the features of various parameters of the density of retinal blood vessels, optic nerve head (ONH) and peripapillary region in hereditary optic neuropathy (HON) patients revealed with optical coherence tomography angiography (OCTA). Material and methods: The study included 29 HON patients divided into three groups based o...

In this article we present clinical, molecular and biochemical investigations of three patients with LHON caused by rare point substitutions in mtDNA. One patient harbours the known mtDNA mutation (m.13513 G>A), the others have new variants (m.13379 A>G in MT-ND5 gene and m.14597 A>G in MT-ND6 gene, which never been previously associated with LHON)...

Recently, the plasma cytokines FGF‐21 and GDF‐15 were described as cellular metabolic regulators. They share an endocrine function and are highly expressed in the liver under stress and during starvation. Several studies found that these markers have high sensitivity and specificity for the diagnosis of mitochondrial diseases, especially those with...

Purpose: To evaluate phenotype-genotype correlations in patients with inherited retinal diseases (IRD) with mutation p.G1961E in the ABCA4 gene. Material and methods: The study included 20 patients with p.G1961E mutation in the heterozygous state in the ABCA4 gene who underwent complete ophthalmic examination, as well as high-performance paralle...

Retinal diseases associated with damage to retinal pigment epithelium (PPE) are the most frequent causes of irreversible loss of vision in adults. Since there is no therapeutic treatment available that could repair RPE and its connections with the adjacent photoreceptors, the review focuses on various methods of surgical treatment. One of the most...

The article offers a review of mitochondrial biogenesis in hereditary optic neuropathies. It covers the mechanisms of mitochondrial biogenesis, factors affecting it and tools for mitochondrial turnover assessment.

patients with Stargardt disease. Material and methods. 56 patients aged 15–44 years who had been diagnosed with Stargardt disease in a history or at the time of the examination were included in the study. All patients underwent standard complete ophthalmic examination, as well as high-performance parallel sequencing of the coding sequences and a...

Mitochondrial complex I deficiency (CID) is one of the most common defects in the OXPHOS system; it represents more than 30% cases of mitochondrial diseases. The group is characterized by clinical and genetic heterogeneity and comprises several nosological forms. The most prevalent phenotypes of CID are Leber hereditary optic neuropathy (LHON) and...

ABCA4 is one of the main genes which mutations are associated with various inherited retinal diseases (IRD) such as Stargardt disease, cone dystrophy, cone-rod dystrophy, and retinitis pigmentosa. Wide prevalence of IRD, high heterogeneity of ABCA4 gene mutations that lead to impaired function of the protein with varying expressiveness make studyin...

ABCA4 is one of the main genes whose mutations are associated with various inherited retinal diseases (IRD) such as Stargardt disease, cone dystrophy, cone-rod dystrophy, and retinitis pigmentosa. The severity of retinal dystrophy phenotype may be related to the degree of mutation pathogenicity, which depends on the localization in various regulato...

Purpose: To determine the causes and study the clinical manifestations of compressive optic neuropathy (CON). Material and methods: The study included 24 male and 36 female patients with CON (in total 60 patients, 97 eyes). All patients underwent standard ophthalmic examination, as well as computer perimetry, magnetic resonance imaging (MRI), an...

Complex I (CI) deficiency is one of the most common defects in the OXPHOS system; it represents more than 30% cases of mitochondrial diseases. The group is characterized by clinical and genetic heterogeneity and comprise several nosological forms. The most prevalent phenotypes for CI are LHON and Leigh syndrome. In this study we have analyzed skin...

Aim. To study the features of the clinical symptoms of toxic optic neuropathy. Methods. 21 patients (42 eyes) with toxic optic neuropathy were examined with the use of standard ophthalmic exam, computer visual field test, spectral optical coherence tomography of the retina and optic nerve. Results. Toxic optic neuropathies were caused by the acute...

Aim: To comparatively evaluate the efficacy of genetic screening in patients with Stargardt disease (SD) by using an express panel of 5 most common ABCA4 mutations and performing massive parallel sequencing of all coding regions of the ABCA4, ELOVL4, PROM1, and CNGB3 genes. Material and methods: MLPA analysis for 5 ABCA4 mutations, namely p.G863...

Aim: to analyze the structure, risk factors, and causes of ischemic optic neuropathy (ION). Material and methods: A total of 239 patients (303 eyes) with ION and 98 patients (185 eyes) with optic disc drusen were examined. All ION patients underwent general clinical assessment. Those under 50 years of age were also tested for antiphospholipid ma...

Leber’s hereditary optic neuropathy (LHON) refers to a group of mitochondrial diseases and is characterized by defects of the mitochondrial electron transport chain and decreased level of oxidative phosphorylation. The list of LHON primary mtDNA mutations is regularly updated. In this study, we describe the homoplasmic nucleotide substitution m.347...

Aim: To assess the relationship between structural abnormalities of the junction of the internal and external segments of photoreceptors (IS/OS junction) and functional changes. Material and methods: The study enrolled 45 patients (90 eyes) with Stargardt disease, of them 22 women and 23 men. Ophthalmic examination included color vision test, st...

The article presents a review of literature on inherited optic neuropathies (ION), namely, Leber's hereditary optic neuropathy and autosomal dominant optic neuropathy. Their molecular genetic characteristics and pathogenetic mechanisms such as mitochondrial respiratory chain deficiency, oxidative stress, mitochondrial dynamics, and biogenesis are c...

Mutations in the ABCA4 gene cause Stargardt disease and other blinding autosomal recessive retinal disorders. However, sequencing of the complete coding sequence in patients with clinical features of Stargardt disease sometimes fails to detect both mutations required to cause the disease. It has previously been hypothesized that mutations near rare...

Aim: to determine tomography findings in optic nerve head (ONH) and retinal nerve fiber layer (RFNL) that may be valuable for differential diagnosis between normal-tension glaucoma (NTG) and ischemic optic neuropathy (ION) outcome. Material and methods: Group 1 consisted of 17 patients (32 eyes) with NTG, group 2--17 patients (24 eyes) with ION...

to evaluate ocular hemodynamics and informativity of estimated individual normal range of intraocular pressure (IOP). A total of 12 patients (22 eyes) with carotid artery malfunction were examined. Ocular blood flow (OBF) and IOP were measured with Ocular Blood Flow Analyzer. Actual OBF was then compared with what is considered normal for a given a...

Objective: To evaluate modern opportunities and prospects for studying pathogenesis and improving diagnostics and treatment of hereditary optic neuropathies (HON). Material and methods: The article presents summarized data on the pathogenesis, diagnostics, and treatment of HON based on modern methods of assessment. Results: The results of long...

The effect of a mixture of N-acetylcarnosine and D-pantethine (1 : 1, m/m) on UV-A induced cataract in rats was studied. It is shown that instillation of a 5% mixture into the eyes or intraperitoneal injections (25 or 150 mg/kg) inhibit the formation of cataracts, starting from 82nd day of the experiment (p < 0.03), after which the protective effec...

The study investigated the relation between the actual intraocular pressure (IOP) and its individual normal range in normal-tension glaucoma (NTG) and ischemic optic neuropathy (ION) outcome. A total of 39 patients (61 eyes) were examined. Group 1 included 19 patients (35 eyes) with newly diagnosed NTG, group 2--20 patients (26 eyes) with the ION o...

The article presents a review of literature on Stargardt's disease and abiotrophy of Franceschetti. Etiopathogenetic, clinical and molecular genetic characteristics are covered. Clinical and genetic classifications of the diseases are provided.

Objective: To study morphological changes of the macula and the peripapillary nerve fiber layer in patients with Leber's hereditary optic neuropathy (LHON). Material and methods: A total of 21 patients (40 eyes) with LHON and 17 healthy volunteers (33 eyes) of the control group were assessed. Optical coherence tomography (OCT) on RTVue-100 for r...

The article presents a review of literature on hereditary optic neuropathies: Leber mitochondrial hereditary optic neuropathy, autosomal dominant and autosomal recessive optic neuropathies, X-linked optic atrophy. Clinical and molecular genetic characteristics are covered. Isolated optic neuropathies, as well as hereditary optic disorders, being a...

Characteristics of ocular blood flow (OBF) in primary open-angle glaucoma (POAG) in eyes with optic disc drusen have been investigated. The study enrolled 21 patient (35 eyes) with optic disc drusen, of which 7 (8 eyes) were diagnosed with POAG. Besides the standard tests, the ophthalmological assessment included evaluation of OBF (flowmetry) and a...

The study enrolled 39 patients (78 orbits) with verified sarcoidosis. Acoustic analysis of pathological changes in ocular and orbital tissues was performed in all cases. A new evaluation method based on a combination of different modes of digital ultrasound techniques has been proposed. New data on intravital changes in sarcoidosis has been obtaine...

A comparative experimental study of biomicroscopic appearance of lenses in cataracts of different genesis (age-related, ultraviolet and other radiation-induced or combined) has been performed on animals (mice). It is shown that identical lens opacification can be provoked by aging (endogenous factor), as well as ultraviolet and other radiation expo...

The article observes the results obtained by different electrophysiological methods in a variety of diseases: cataracts (192 eyes with different lens density measured objectively), antiphospholipid syndrome (50 patients with primary and secondary forms of the disease), different non-glaucomatous optic neuropathies (188 eyes), visual analyzer impair...

Characteristics of ocular hemodynamics in ischemic optic neuropathy (ION) outcome and normal tension glaucoma (NTG), the conditions that are difficult to be differentially diagnosed, have been investigated. The study enrolled 32 patients (40 eyes) with ION outcome, 26 patients (46 eyes) with NTG, and 20 patients (32 eyes) with no ocular pathology....

DNA samples of 50 patients with optic neuropathy (ON) associated with congenital cataract were studied to find 3 major mt-DNA mutations (m.11778G>A, m.3460G>A, m.14484T>C), mutations in "hot" regions of OPA 1 gene (exons 8, 14, 15, 16, 18, 27, 28) and in the entire coding sequence of OPA3 gene for molecular genetic confirmation of diagnosis of here...

86 patients with verified diagnosis of sarcoidosis with globe, adnexa and orbit manifestations were observed. The age of the patients ranged from 21 to 43 years old (average 35,1+/-1,2 years), among them 25 males and 61 females with disease duration from 1 month till 12 years and 15 years follow-up. The study is based on different variants of globe...

Based on a numerous data (220 patients, 285 eyes) clinical criteria of differential diagnosis of optic neuritis and nonarteritic ischemic optic neuropathy are studied. Neuronal network method was used for multivariate analysis of studied parameters, that allowed to estimate linear and nonlinear correlations of different factors, significance of eve...

Comparative study of lens biomicroscopy in cataract of different etiology (senile, ultraviolet, radioactive and combined ultraviolet- radioactive exposure) is performed in experiment on animals (mice). Lens opacification pattern was showed to be similar in aging as an endogenous factor and ultraviolet (UV) and radioactive exposure as exogenous phys...

Microscopic lens changes are studied in mice (F1C57B1XCBA) depending on age and after ultraviolet (UV), gamma-irradiation and their combination. In all animals compared to young 3-months animals nonspecific changes due to aging were revealed: microvacuoles in cytoplasm of fiber cells, flattening of epithelial cells and nuclei fragmentation, swellin...

Using differential electrophoresis protein composition of lens major proteins in hybrid mice F1 (C57B1XCBA) with cataracts of different etiology (senile, ultraviolet, radioactive and combined ultraviolet-radioactive exposure) was studied Changes that may be specific for cataract caused by aging, ultraviolet and/or gamma-irradiation were not reveale...

62 patients (109 eyes) with glaucoma-like optic nerve head cupping and normal IOP indices (Po not more than 21 mm Hg) were examined to find the etiology of optic nerve changes. Regarding corneal biomechanics new-onset primary open-angle glaucoma (POAG) and normal tension glaucoma (NTG) were diagnosed in 27% and 3% of examined patients respectively....

Four randomized groups of male mice Fl (C57Black/CBA) were investigated: (a) UV-irraidated (UV-A, 15 min daily over 10 months, 51 ± 7 W/m2); (b) γ-ray irradiated (2 Gy), single; (c) influence of combination of UV- and γ-ray treatment; (d) aging. The lens opacities were measured at the seventh and tenth month. An expert method based on a six-point s...

Results of fundus autofluorescence imaging using confocal scanning laser ophthalmoscope HRA II ("Heidelberg Engeneering", Heidelberg, Germany) are presented. 106 patients with various retinal and optic nerve conditions were examined. The following conditions were diagnosed using autofluorescence imaging: early stage of age-related macular degenerat...

132 patients (188 eyes) with proven optic neuropathy of non-glaucomatous origin were examined using static perimetry, visual evoked potential (flash and pattern types), optic coherent tomography of papilla and thickness of peripapillary nerve fiber layer. Sensitivity/ specificity of methods for identification of optic nerve diseases in acute stage...

Thirty-four patients (53 eyes) with suspected optic nerve and retinal diseases were examined. For differential diagnosis, the authors used current studies of the ocular neurosensory apparatus, such as retinal tomography, computer static perimetry, and electrophysiologial techniques, including multifocal electroretinography. The complex use of struc...

The study enrolled 63 patients (108 eyes) suspected for optic disc drusen (ODD). ODD were found in 45 patients (83 eyes). Ophthalmoscopic study determined only visible superficial drusen, which accounted for 36.4% of all the found cases. The autofluorescence technique could reveal mainly superficial or shallow drusen in 70.1% of cases and different...

Forty-five patients (83 eyes) aged 17 to 80 years with optic disc drusen (ODD) were examined. Acute anterior ischemic optic neuropathy (AION) was detected in 6% of all the cases. Chronic optic neuropathy (ON) was revealed in 60%, which was predominantly slowly, progressive, asymptomatic and manifested as changes in the paracentral and peripheral fi...

Twenty-six patients (45 eyes) (median age 55 years) with optic disc drusen (ODD) (a study group) and 24 healthy volunteers (47 eyes) (median age 53 years) (a control group) were examined. Nerve fiber layer thinning determined by optic coherence tomography (OCT) was found in 65% of the ODD. In 20% of the patients with ODD, nerve fiber layer thinning...