Vestnik oftalmologii最新文献

Purpose: This study investigated the prevalence and morphofunctional characteristics of the retina in the diagnosis of various types of Leber congenital amaurosis (LCA) among patients from Moscow and the Moscow region, based on the data from the Consultative and Diagnostic Center of the Morozov Children's City Clinical Hospital.

Material and methods: In order to analyze the polymorphism and prevalence of LCA, the study examined a total of 226 patients suspected of having hereditary retinal dystrophies, genetic diagnosis of Leber amaurosis was confirmed in 24 patients. All 24 patients underwent electrophysiological tests, including visual evoked potentials (VEP) from the sensory retina to the visual centers, and electroretinography (ERG) of the posterior pole of the retina. In children over 5 years old, additional methods were used: optical coherence tomography (OCT), fundus photography, and fundus autofluorescence (FAF) using a fundus camera.

Results: According to the molecular genetic analysis, the most frequent type was LCA type 10 (37%), followed by LCA type 2 (16%). The most common clinical manifestations among patients were nystagmus, impaired night vision, waxy optic disc pallor, narrowed arteries, and changes on the ERG. OCT revealed changes in the outer retinal layers in all patients. ERG showed abnormalities in 100% of the patients, with the maximal ERG either not being recorded or significantly reduced. During VEP, most patients exhibited configuration disturbances, increased latency, and a sharp decrease in the amplitude of the P100 component.

Conclusion: The analysis of patients with genetically confirmed Leber amaurosis revealed that LCA type 10 caused by mutations in the CEP290 gene was the most common (37%), followed by LCA type 2 (16%) caused by mutations in the RPE65 gene.

Keratoconus (KC) is a bilateral progressive disease that often begins in young adulthood. Advanced KC significantly impairs patients' quality of life, making early detection of the condition a critical goal for specialists. Early identification of KC greatly influences both the treatment strategy and the outcomes. This review focuses on the ocular wavefront in KC, which is of interest from the perspective of early diagnosis. The article outlines the nature of optical aberrations in the eye, particularly in KC, and the principles of wavefront aberration analysis. An increase in higher-order aberrations is one of the earliest signs of incipient KC and a key contributor to reduced visual quality. Some of the widely used KC treatment methods, such as corneal cross-linking and the implantation of intracorneal segments, has been established to positively impact many aspects of KC pathogenesis, including reduction in higher-order aberrations, which in turn improves visual quality. Monitoring of the outcomes of treatment or optical correction in KC using higher-order aberrations is a delicate approach, as vision improvements following treatment are often unexplained by routine eye examination methods. However, the choice of the optimal method of visual rehabilitation for KC patients remains unresolved. Efforts to find new treatment methods, primarily through combinations and modifications of existing techniques, are ongoing. The article discusses this promising approach of using wavefront as an additional criterion for assessing the performance of the optical system in the diagnosis, treatment, and optical correction of KC.

This case report presents the diagnostic features of isolated primary intraocular lymphoma, which was initially misdiagnosed as neovascular age-related macular degeneration. A comprehensive examination using ultrasound, optical coherence tomography, and fundus autofluorescence revealed changes characteristic of vitreoretinal lymphoma. Molecular genetic analysis of the vitreous body showed the presence of a MYD88 gene mutation and B-cell clonality by immunoglobulin heavy chain (IGH) gene rearrangement tests, which confirmed the diagnosis.

Many key aspects of retinal ganglion cell (RGC) neurodegeneration in glaucoma are associated with mitochondrial dysfunction. Understanding the mechanisms and relationships between structural and functional changes in mitochondria would be beneficial for developing mitochondria-targeted therapeutic strategies to protect RGCs from glaucomatous neurodegeneration.

Purpose: This study determines the extent of mitochondrial dysfunction in patients with primary open-angle glaucoma (POAG) and evaluates the potential for stabilizing the glaucomatous process by improving mitochondrial functional activity and energy production by therapy with Mexidol and Mexidol FORTE 250.

Material and methods: The study included 80 patients with moderate POAG with compensated intraocular pressure and 20 healthy volunteers. The extent of mitochondrial dysfunction was assessed by measuring the activity levels of mitochondrial enzymes: succinate dehydrogenase (SDH) and α-glycerophosphate dehydrogenase (α-GPDH) in peripheral blood lymphocytes using cytochemical analysis and cytometric morphology and density analysis (cytomorphodensitometry). Patients in the main group received sequential therapy with Mexidol as follows: Mexidol solution for intravenous and intramuscular administration at 50 mg/ml, 300 mg daily intramuscularly for 14 days, followed by Mexidol FORTE 250 tablets, one tablet three times daily for 56 days. Stabilization of glaucomatous optic neuropathy during treatment was evaluated using a comprehensive set of perimetric, electrophysiological, and structural-topographical methods at 14, 56, and 90 days.

Results: Sequential therapy in the main group resulted in a significant increase in mitochondrial enzyme activity at 14 and 56 days compared to baseline, with a gradual regression by the end of the observation period (90 days). This was accompanied by an increase in the number of mitochondria and an increase in their optical density as measured by cytomorphodensitometry. The improvement in mitochondrial enzyme activity at 14 and 56 days was associated with positive changes in the structural and functional parameters of the retina, as evidenced by static perimetry, optical coherence tomography, and a series of electrophysiological tests.

Conclusion: The obtained data can be used to optimize POAG therapy by reducing mitochondrial dysfunction and stabilizing glaucomatous optic neuropathy.

The management protocol for patients with neovascular age-related macular degeneration (nAMD) involves multiple intravitreal injections (IVI) of anti-VEGF drugs. The ability to reduce the peak intraocular pressure (IOP) rise is greatly important in clinical practice.

Purpose: This study evaluates the effect of topical hypotensive drugs on the short-term IOP rise after IVI of anti-VEGF drugs in patients with nAMD.

Material and methods: The prospective study included 80 patients with newly diagnosed nAMD. Before the start of treatment, the patients were divided into 4 groups of 20 people each: 1st - controls, who received no prophylactic drugs, in the 2nd, 3rd and 4th groups local instillations of one drop of hypotensive drugs brinzolamide 1%, brinzolamide-timolol, brimonidine-timolol were performed in the conjunctival sac twice: 1 day before the injection (at 20:00) and on the day of the injection 2 hours before the manipulation (at 08:00), respectively. IOP was measured in each patient using ICare Pro non-contact tonometer before injection, as well as 1 min, 30 and 60 min after injection.

Results: Prophylactic use of hypotensive drugs was associated with a significant decrease in IOP immediately after IVI compared to the same parameter in the 1st group (p<0.001), the maximum decrease in IOP values was observed when using a fixed combination of brimonidine-timolol by 12.1 mm Hg compared to the controls (p<0.001), the combination of brinzolamide-timolol reduced IOP by 8.5 mm Hg (p<0.001), brinzolamide 1% led to the smallest decrease in IOP - by 5.1 mm Hg (p<0.001).

Conclusion: Study patients that received instillations of brimonidine-timolol combination of one drop into the conjunctival sac 1 day before the injection and on the day of the injection showed the maximum decrease in IOP compared to patients of the other groups.

Deep anterior lamellar keratoplasty or penetrating keratoplasty are currently considered the optimal methods of surgical treatment of stromal dystrophies and corneal degeneration. Despite certain advantages and benefits of these methods, they also have significant limitations: involvement of superficial corneal layers in the surgery, need for suturing, development of post-keratoplasty astigmatism etc.

Purpose: This study aimed to test and describe the new method of closed sutureless keratoplasty (intracorneal selective stromal transplantation), which was indicated in isolated dystrophic and degenerative pathology of the stroma.

Material and methods: Intracorneal selective stromal transplantation was performed in a 62-year-old patient with stromal degeneration and intact corneal layers between the altered stroma and the Descemet's membrane posteriorly, and the Bowman's layer anteriorly. The patient also had immature senile cataract. Corneal stroma was removed and replaced with a graft in the optical center of the lens, while the endothelium, the Descemet's membrane and the Bowman's layer remained intact.

Results: The proposed technique of intracorneal selective stromal transplantation makes it possible to replace only the pathologically altered stroma through closed surgical approach, without affecting the anterior and posterior surfaces of the cornea. Best-corrected visual acuity has increased in the patient from 0.01 to 0.6, while mean endothelial cell density has not changed in the course of 24-months follow-up.

Conclusion: The proposed keratoplasty method can be used in patients with dystrophy or degeneration of the corneal stroma and preserved endothelial cells, intact Descemet's membrane and Bowman layer. Since the superficial corneal layers are not involved during the surgery, intracorneal selective stromal transplantation combined the advantages of both deep anterior lamellar keratoplasty and endothelial keratoplasty. The biologically favorable result in this first clinical case allows a preliminary conclusion on the technical possibility and functional effectiveness of the proposed method, but further long-term observation and more clinical cases are required.

Intravitreal injection (IVI) of anti-angiogenic drugs is one of the most common therapeutic procedures in ophthalmology. In recent years, a new non-contact study method has been developed - anterior segment optical coherence tomography (AS-OCT), which allows the formation of three-dimensional images of the lens and provides more detailed information about its structure and morphology.

Purpose: This study uses optical coherence tomography method to analyze the risks of developing changes in the posterior lens capsule in patients after IVI of an anti-angiogenic drug.

Material and methods: The study involved 100 people (14 men and 86 women) with a natural lens and neovascular age-related macular degeneration (nAMD). The average age was 70.57±7.98 years. During the study (12 months), all patients underwent IVI of an anti-angiogenic drug aflibercept in the treat-and-extend (T&E) mode. All subjects were divided into 2 groups: with a total number of IVI less than 10 - group 1 (50 patients), and more than 10 IVI - group 2 (50 patients, of which 49 were included in the study). All patients underwent OCT using the Optopol REVO NX device (Poland) with the Anterior B-scan Wide protocol before inclusion in the study, as well as after 3, 6 and 12 months.

Results: It was found that the risk of developing a posterior lens capsule rupture, visualized using OCT, depends on the total number of IVI (correlation coefficient 0.473 p=0.001): the more IVI, the higher the probability that damage to the posterior capsule will occur after the next IVI, and after the 15th injection the risk of developing damage to the posterior capsule increases sharply.

Conclusion: The astudy analyzed the risk factors for the development of posterior lens capsule damage that can be detected using OCT, and presented three risk groups for the development of rupture (or damage) of the posterior lens capsule depending on the number of intravitreal injections performed.

Circumscribed choroidal hemangioma (CCH) and early non-pigmented choroidal melanoma (CM) have similar clinical, ultrasound and morphometric features, which in some cases makes their differential diagnosis difficult. There are few studies in the literature devoted to a comparative analysis of the molecular genetic features of CCH and non-pigmented CM, and the results of those studies are contradictory.

Purpose: This study attempts to develop a method of non-invasive molecular genetic differential diagnostics of CCH and non-pigmented CM.

Material and methods: Based on the results of clinical and instrumental examination methods, 60 patients (60 eyes) with CCH (n=30) and non-pigmented CM (n=30) were included in this prospective study. The control group consisted of 30 individuals without intraocular tumors. Mutations in the GNAQ/GNA11 genes were determined by real-time PCR using the analysis of genomic circulating tumor DNA isolated from peripheral blood plasma. The average follow-up period was 12.1±1.8 months.

Results: The study revealed a significant association of mutations in exons 4 and 5 of the GNAQ/GNA11 genes with the presence of non-pigmented CM (27/30; 90%). These mutations were not detected in the group of patients with CCH. Mutations in exons 4 and 5 of the GNAQ/GNA11 genes were also not detected in the control group of healthy individuals.

Conclusion: This study proposes a method of non-invasive and low-cost differential diagnostics based on molecular genetic analysis and detection of mutations in exons 4 and 5 of the GNAQ and GNA11 genes, which are specific for CM (90%).

Purpose: This study evaluates the accuracy of modern intraocular lens (IOL) calculation formulas using axial length (AL) data obtained by ultrasound biometry (UBM) compared to the third-generation SRK/T calculator.

Material and methods: The study included 230 patients (267 eyes) with severe lens opacities that prevented optical biometry, who underwent phacoemulsification (PE) with IOL implantation. IOL power calculation according to the SRK/T formula was based on AL and anterior chamber depth obtained by UBM (Tomey Biometer Al-100) and keratometry on the Topcon KR 8800 autorefractometer. To adapt AL for new generation calculators - Barrett Universal II (BUII), Hill RBF ver. 3.0 (RBF), Kane and Ladas Super Formula (LSF) - the retinal thickness (0.20 mm) was added to the axial length determined by UBM, and then the optical power of the artificial lens was calculated. The mean error and its modulus value were used as criteria for the accuracy of IOL calculation.

Results: A significant difference (p=0.008) in the mean IOL calculation error was found between the formulas. Pairwise analysis revealed differences between SRK/T (-0.32±0.58 D) and other formulas - BUII (-0.16±0.52 D; p=0.014), RBF (-0.17±0.51 D; p=0.024), Kane (-0.17±0.52 D; p=0.029), but not with the LSF calculator (-0.19±0.53 D; p=0.071). No significant differences between the formulas were found in terms of mean error modulus (p=0.238). New generation calculators showed a more frequent success in hitting target refraction (within ±1.00 D in more than 95% of cases) than the SRK/T formula (86%).

Conclusion: The proposed method of adding 0.20 mm to the AL determined by UBM allows using this parameter in modern IOL calculation formulas and improving the refractive results of PE, especially in eyes with non-standard anterior segment structure.

Multiple sclerosis (MS) is a chronic autoimmune-inflammatory and neurodegenerative disease.

Purpose: This study explores the main structural changes in patients with MS and their relationships with the activity and type of disease course.

Material and methods: This prospective study included 159 patients (318 eyes) with an established diagnosis of MS: group (44 eyes; 13.84%) - relapsing-remitting type MS (RRMS) lasting up to 1 year without a history of optic neuritis (ON); group 2 (30 eyes; 9.43%) - RRMS up to 1 year with ON; group 3 (56 eyes; 17.61%) - RRMS lasting from 1 to 10 years without ON; group 4 (38 eyes; 11.95%) - RRMS from 1 to 10 years with ON; group 5 (49 eyes; 15.41%) - RRMS >10 years without ON; group 6 (37 eyes; 11.63%) - RRMS >10 years with ON; group 7 (34 eyes; 10.69%) - secondary progressive multiple sclerosis (SPMS) without ON; group 8 (30 eyes; 9.43%) - SPMS with ON. Patients underwent standard ophthalmological examinations, including optical coherence tomography.

Results: A decrease in structural parameters was diagnosed, progressing with the duration of the disease and the presence of ON: the minimum values of mGCL+IPL (65.83±9.14 μm) and mSNFL (76.37±14.77 μm) were detected in the group with SPMS with ON. High inverse correlations of EDSS with mGCL+IPL and mRNFL were demonstrated, with maximum in the group with the longest duration of MS without ON (-0.48 and -0.52 (p=0.01), respectively).

Conclusion: Changes in the thickness of the structural parameters of the retina, measured by OCT, can be considered as a predictor of the course of MS.