[Peripapillary pachychoroid syndrome].

Peripapillary pachychoroid syndrome (PPS) is a recently described condition, classified within the pachychoroid disease spectrum characterized by focal or diffuse thickening of the choroid due to dilation of choroidal vessels in the Haller's layer (pachyvessels), thinning of the choriocapillaris and the Sattler's layer, and accompanied by increased choroidal permeability and damage to the retinal pigment epithelium. Unlike other pachychoroid diseases that involve changes in the central retina, PPS presents with choroidal thickening and intra- or subretinal fluid located nasally in the macular region, near the optic disc. This review aims to summarize and analyze current data on the clinical features, pathogenesis, and treatment options for PPS found in the literature.

[Brain magnetic resonance imaging features in Leber's hereditary optic neuropathy].

Leber's hereditary optic neuropathy (LHON) is the most common inherited mitochondrial disease, characterized by the development of bilateral partial optic nerve atrophy. Modern neuroimaging technologies enable the acquisition of high-quality images, allowing for the evaluation of all structural components of the orbits, including the optic nerve. Consequently, the relevance of performing magnetic resonance imaging (MRI) in patients with LHON has increased.

[Typical and atypical optic neuritis].

Optic neuritis (ON) is one of the most common neuro-ophthalmic causes of vision loss worldwide. Demyelinating ON can be idiopathic or be one of the symptoms of autoimmune demyelinating diseases of the central nervous system (CNS) such as multiple sclerosis (MS), neuromyelitis optica spectrum disorders (NMOSD), myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). Demographic, clinical and radiological signs of ON in these CNS diseases have differences.

[Hereditary optic neuropathy associated with demyelinating diseases of the central nervous system].

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), neuromyelitis optica spectrum disorders (NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody disease (MOGAD). HON are a group of neurodegenerative diseases, among which the most common variants are Leber's hereditary optic neuropathy (LHON), associated with mitochondrial DNA (mtDNA) mutations, and autosomal recessive optic neuropathy (ARON), caused by nuclear DNA (nDNA) mutations in .

[Optic neuropathies as an interdisciplinary subject of research].

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 multiple sclerosis, neuromyelitis optica spectrum disorder, and MOG-associated diseases. Of special interest is differential diagnosis of optic neuropathy in demyelinating diseases of the central nervous system, hereditary optic neuropathies and ischemic optic neuropathy.

[Autosomal recessive optic neuropathies: genetic variants, clinical manifestations].

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 the most common genetic hereditary optic neuropathies, while autosomal recessive optic neuropathies (ARON) were described as rare types of HON, usually accompanying severe syndromic pathologies. In the 2000s it has become clear that ARON occur significantly more often, are underestimated, and their clinical variability is poorly studied.

[Multifocal electroretinography in assessment of the functional state of the central retina in patients with retinitis pigmentosa].

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 multifocal electroretinography (mfERG) in the diagnostics of the functional state of the central retina in retinitis pigmentosa (RP).

[Bilateral vision loss on programmed hemodialysis (clinical observation)].

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 diagnosis in bilateral visual impairment is discussed.

[Leber's hereditary optic neuropathy clinical features in patients with mitochondrial DNA m.13513G>A candidate mutation].

Unlabelled: 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.

[Metabolic disorders in hereditary optic neuropathies].

Unlabelled: 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 B and homocysteine.

[The importance of OCT angiography and Doppler ultrasound methods in diagnosis of optic neuropathies].

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.

Electrophysiological and psychophysical studies in assessment of visual functions in patients with hereditary optic neuropathy.

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 study patients underwent visual field test (VFT), spectral optical coherence tomography (OCT), flash and pattern visual evoked potentials (VEP) (Flash-VEP, FVEP; Pattern-VEP, PVEP), photopic electroretinography with photonegative response (PhNR) registration and the color vision test.

[Poppers maculopathy (case study)].

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 optical coherence tomography, as well as changes in multifocal and ganzfeld electroretinography readings. The main strategy for patients with this disorder is complete rejection of poppers.

[Asymmetric form of pigmentary retinopathy (case study)].

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 asymmetric PR.

[Clinical and genetic aspects of ABCA4-associated inherited retinal diseases].

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

[New possibilities in diagnosis of hereditary optic neuropathies].

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 retinal nerve fiber layer (RNFL) in the acute stage of the disease was observed in 47% of cases. MtDNA mutations that cause the development of Leber hereditary optic neuropathy (LHON) were detected in 73% of cases, including three frequent mutations in 59% of cases, rare and candidate mutations - in 14% of cases; nDNA mutations associated with autosomal dominant optic neuropathy (ADON) - in 6.

Possibilities of an experimental damaging effect on the retinal pigment epithelium.

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 1 group received a subretinal injection of balanced saline solution (BSS); the 2 group - subretinal injection of BSS with vitrectomy, displacement of the injection bladder away from the injection site using a perfluororganic compound (PFOC) and laser coagulation; the 3 group - subretinal injection of a culture of NPs using the same method as in the group 2. All rabbits were observed for 21 days using ophthalmoscopy, optical coherence tomography (OCT) and autofluorescence (AF).

[New possibilities in the treatment of Stargardt disease].

Stargardt disease is a hereditary retinal dystrophy associated with mutations in the 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, complement inhibition and RPE regeneration by stem cell transplantation, as well as gene therapy studies with intravitreal vector injection of the functional gene.

[Structural and functional changes in the retina and optic nerve in patients with toxic optic neuropathy caused by acute methanol poisoning].

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 after ethanol containing alcohol use were examined with kinetic perimetry and optical coherence tomography.

Results: Patients with TON caused by acute methanol poisoning were observed to have decreasing visual acuity to the extent of complete blindness.

[Morphological and functional indicators of retinal pigment epithelium and photoreceptor apparatus in inherited retinal diseases].

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 pigmentosa/pigmentary abiotrophy (RP) of comparable disease durations. All patients underwent standard and additional ophthalmological examination: fundus autofluorescence (AF), spectral optical coherence tomography (OCT), computer perimetry (CP), electro-oculography (EOG), Ganzfeld electroretinography (gERG).

[Characteristics of changes in retinal and optic nerve microvascularisature in Leber hereditary optic neuropathy patients seen with optical coherence tomography angiography].

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 on symptoms duration (less than 1 year; 1-5 years, more than 5 years) and visual acuity (0.5-1.