Vestnik oftalmologii最新文献

{"title":"[Selective assessment of biomechanical properties of the lens capsule].","authors":"S E Avetisov, A V Shitikova, K S Avetisov, T E Borisenko, L S Pateyuk, A E Aslamazova, P S Timashev, Yu M Efremov","doi":"10.17116/oftalma202414006115","DOIUrl":"https://doi.org/10.17116/oftalma202414006115","url":null,"abstract":"<p><p>The scientific and practical interest in studying the biomechanical characteristics of the lens capsule, on the one hand, is associated with its anatomical significance in modern microinvasive phaco surgery, and on the other hand, with investigation of the mechanisms of lens curvature changes during accommodation. Selective study of the biomechanical properties of the lens capsule aims to identify characteristics of various regions and surfaces of the capsule.</p><p><strong>Purpose: </strong>This study is a comparative analysis of age-related changes in the biomechanical properties of the anterior (AC) and posterior (PC) lens capsules in humans.</p><p><strong>Material and methods: </strong>The study analyzed 73 pairs of central fragments of the AC and PC of the lens, obtained from donor (cadaver) eyes and through anterior and posterior capsulorhexis during microinvasive phaco surgery (38 and 35 paired samples, respectively). Planned biomechanical testing followed a previously developed protocol for examining the anterior capsule, including determination of the Young's modulus using atomic force microscopy.</p><p><strong>Results: </strong>Comparing the Young's modulus of lens capsule samples from donor eyes and microinvasive phaco surgery revealed no significant differences in mean values, indirectly indicating minimal postmortem impact on the biomechanical properties of the capsule. General biomechanical patterns observed in the human lens capsule show the Young's modulus (stiffness) is higher in the AC than the PC, and higher on the inner than the outer surface for both the AC and PC. Age-related changes are associated with an increase in stiffness on the outer surface and its decrease on the inner surface, more pronounced in the AC.</p><p><strong>Conclusion: </strong>The obtained results indicate the need for further investigation into the role of capsule biomechanics in age-related accommodative disorders.</p>","PeriodicalId":23529,"journal":{"name":"Vestnik oftalmologii","volume":"140 6","pages":"15-23"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142898430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Polymorphism and modern diagnostic approaches for Leber congenital amaurosis].","authors":"I E Khatsenko, E I Brodnitskaya, S V Kuznetsova","doi":"10.17116/oftalma202414005156","DOIUrl":"https://doi.org/10.17116/oftalma202414005156","url":null,"abstract":"<p><strong>Purpose: </strong>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.</p><p><strong>Material and methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>The analysis of patients with genetically confirmed Leber amaurosis revealed that LCA type 10 caused by mutations in the <i>CEP290</i> gene was the most common (37%), followed by LCA type 2 (16%) caused by mutations in the <i>RPE65</i> gene.</p>","PeriodicalId":23529,"journal":{"name":"Vestnik oftalmologii","volume":"140 5","pages":"56-62"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142682983","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Aberrometry in the diagnosis and treatment of keratoconus].","authors":"S I Anisimov, S Micovic, N S Anisimova","doi":"10.17116/oftalma2024140051162","DOIUrl":"https://doi.org/10.17116/oftalma2024140051162","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":23529,"journal":{"name":"Vestnik oftalmologii","volume":"140 5","pages":"162-168"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142682949","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Analysis of the effectiveness of cataract surgery in neovascular age-related macular degeneration].","authors":"A Zh Fursova, E I Dmitrieva, M A Vasilieva, A S Derbeneva, Yu A Karlash, A A Atamanenko, I F Nikulich, M S Tarasov","doi":"10.17116/oftalma20241400617","DOIUrl":"https://doi.org/10.17116/oftalma20241400617","url":null,"abstract":"<p><strong>Purpose: </strong>This study evaluated the impact of phacoemulsification cataract surgery (PE) on anatomical and functional parameters, as well as the regimen and frequency of anti-VEGF injections in patients with neovascular age-related macular degeneration (nAMD) over a long-term period (up to 3 years).</p><p><strong>Material and methods: </strong>The study included 117 patients (117 eyes) diagnosed with nAMD and cataract, graded by LOCS: LOCS I (<i>n</i>=56; 47.9%), LOCS II (<i>n</i>=57; 48.7%), LOCS III (<i>n</i>=4; 3.4%); the average age of the patients was 76.2±5.7 years. All patients received anti-VEGF therapy (aflibercept 2 mg) following the treat-and-extend protocol. PE was performed only with disease activity under control. The observation period included 12 months before PE and 36 months after, with eight checkpoints for standard ophthalmological examination.</p><p><strong>Results: </strong>The average number of injections before PE was 6.85±1.78. In the first year after PE, the injection frequency increased to 7.85±0.83, then decreased to 7.04±1.50 in the second year and 3.85±1.22 in the third, with intervals between injections lengthening (to 13.35±1.84 weeks by the third year). All eyes (100%) demonstrated significant improvement in best-corrected visual acuity (BCVA), with an absolute increase of 0.28 from pre-PE baseline (from 0.22±0.17 to 0.50±0.18 by study end). There was a positive trend in reduction of central retinal thickness (by 138.5 μm or 36.5%) compared to baseline at the start of treatment, as well as reduction in neuroretinal and retinal pigment epithelial detachment over the observation period. Statistically significant correlations were found between BCVA, injection frequency, injection interval, and morphological biomarkers of nAMD activity over time.</p><p><strong>Conclusion: </strong>Initiation of antiangiogenic therapy in nAMD patients and the continuation of individualized monitoring and treatment after PE is associated with effective suppression of nAMD activity, improvement in functional and anatomical parameters, and a reduction in the number of intravitreal injections both in the short term and the long term.</p>","PeriodicalId":23529,"journal":{"name":"Vestnik oftalmologii","volume":"140 6","pages":"7-14"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142898571","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Isolated primary vitreoretinal lymphoma (case report)].","authors":"A S Stoyukhina, E N Korobov, S A Smolin","doi":"10.17116/oftalma202414002294","DOIUrl":"10.17116/oftalma202414002294","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":23529,"journal":{"name":"Vestnik oftalmologii","volume":"140 2. Vyp. 2","pages":"94-101"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140912855","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[The role of mitochondrial dysfunction in the stabilization of the glaucomatous process].","authors":"A S Vlasova, T N Malishevskaya, S A Petrov, D G Gubin, S Yu Petrov, Yu E Filippova","doi":"10.17116/oftalma202414004149","DOIUrl":"https://doi.org/10.17116/oftalma202414004149","url":null,"abstract":"<p><p>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.</p><p><strong>Purpose: </strong>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.</p><p><strong>Material and methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>The obtained data can be used to optimize POAG therapy by reducing mitochondrial dysfunction and stabilizing glaucomatous optic neuropathy.</p>","PeriodicalId":23529,"journal":{"name":"Vestnik oftalmologii","volume":"140 4","pages":"49-58"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142296637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Topical application of hypotensive drugs for the prevention of intraocular pressure elevation after intravitreal injections of anti-VEGF drugs].","authors":"Yu S Andreeva, L Alkharki, A V Shelankova, M V Budzinskaya","doi":"10.17116/oftalma202414002273","DOIUrl":"10.17116/oftalma202414002273","url":null,"abstract":"<p><p>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.</p><p><strong>Purpose: </strong>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.</p><p><strong>Material and methods: </strong>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.</p><p><strong>Results: </strong>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 (<i>p</i><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 (<i>p</i><0.001), the combination of brinzolamide-timolol reduced IOP by 8.5 mm Hg (<i>p</i><0.001), brinzolamide 1% led to the smallest decrease in IOP - by 5.1 mm Hg (<i>p</i><0.001).</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":23529,"journal":{"name":"Vestnik oftalmologii","volume":"140 2. Vyp. 2","pages":"73-79"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140912896","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Intracorneal selective stromal transplantation].","authors":"O G Oganesyan, D A Gusak, P V Makarov, P M Ashikova","doi":"10.17116/oftalma202414001186","DOIUrl":"10.17116/oftalma202414001186","url":null,"abstract":"<p><p>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.</p><p><strong>Purpose: </strong>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.</p><p><strong>Material and methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":23529,"journal":{"name":"Vestnik oftalmologii","volume":"140 1","pages":"86-92"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140050469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Application of optical coherence tomography in the assessment of the posterior lens capsule during anti-angiogenic therapy].","authors":"L Alkharki, S N Yusef, Ya M Al-Makhdar, I V Andreeva, A G Matyuschenko, A N Gerasimov, M V Budzinskaya","doi":"10.17116/oftalma202414002228","DOIUrl":"https://doi.org/10.17116/oftalma202414002228","url":null,"abstract":"<p><p>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.</p><p><strong>Purpose: </strong>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.</p><p><strong>Material and methods: </strong>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.</p><p><strong>Results: </strong>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 <i>p</i>=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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":23529,"journal":{"name":"Vestnik oftalmologii","volume":"140 2. Vyp. 2","pages":"28-33"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140912768","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Circumscribed choroidal hemangioma and non-pigmented choroidal melanoma: clinical, instrumental and molecular genetic features].","authors":"S V Saakyan, N V Sklyarova, A Yu Tsygankov, V R Alikhanova, V I Loginov, A M Burdenny","doi":"10.17116/oftalma20241400215","DOIUrl":"10.17116/oftalma20241400215","url":null,"abstract":"<p><p>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.</p><p><strong>Purpose: </strong>This study attempts to develop a method of non-invasive molecular genetic differential diagnostics of CCH and non-pigmented CM.</p><p><strong>Material and methods: </strong>Based on the results of clinical and instrumental examination methods, 60 patients (60 eyes) with CCH (<i>n</i>=30) and non-pigmented CM (<i>n</i>=30) were included in this prospective study. The control group consisted of 30 individuals without intraocular tumors. Mutations in the <i>GNAQ</i>/<i>GNA11</i> 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.</p><p><strong>Results: </strong>The study revealed a significant association of mutations in exons 4 and 5 of the <i>GNAQ</i>/<i>GNA11</i> 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 <i>GNAQ</i>/<i>GNA11</i> genes were also not detected in the control group of healthy individuals.</p><p><strong>Conclusion: </strong>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 <i>GNAQ</i> and <i>GNA11</i> genes, which are specific for CM (90%).</p>","PeriodicalId":23529,"journal":{"name":"Vestnik oftalmologii","volume":"140 2","pages":"5-13"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140915719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}