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1.
Vestn Oftalmol ; 138(6): 44-54, 2022.
Artigo em Russo | MEDLINE | ID: mdl-36573947

RESUMO

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). MATERIAL AND METHODS: The study included 115 patients (228 eyes) with PR and 15 people (30 eyes) who comprised the control group. All subjects underwent standard ophthalmological examination, computer perimetry, color vision study, retinal spectral optical coherence tomography, ganzfeld electroretinography (gERG) and mfERG. The relationship between mfERG parameters and the degree of gERG changes, as well as various functional and morphological parameters of the retina was assessed. RESULTS: Visual acuity and perimetry indices varied over a wide range. GERG was unrecordable in 50.4% of cases. MfERG was registered in 214 (98.3%) eyes with varying degrees of change in visual acuity, visual field and gERG parameters. A medium degree positive relationship was revealed between the biopotential density of the retina in the foveal and parafoveal zones and visual acuity (rs=0.68; 0.63), a high degree - between the density of ttotal biopotential of the central retina (DValue) and the average light sensitivity (rs=0.9), a weak degree - between DValue and the thickness and volume of the peripheral retina (rs=0.37; 0.42), a medium negative correlation was found between the average defect in light sensitivity and the biopotential density in the periphery (Rings 4-5) on mfERG, DValue (rs= -0.67; -0.65; -0.69). CONCLUSION: MfERG detects retinal dysfunctions at an early stage of RP, in eyes with high visual acuity, normal parameters of the central visual field and gERG, as well as in low visual acuity, a pronounced decrease in light sensitivity, unrecordable gERG. MfERG can be informative in the selection of patients with RP for gene therapy.


Assuntos
Eletrorretinografia , Retinose Pigmentar , Humanos , Eletrorretinografia/métodos , Fotofobia , Retina/diagnóstico por imagem , Retinose Pigmentar/diagnóstico , Fóvea Central , Tomografia de Coerência Óptica/métodos
2.
Vestn Oftalmol ; 138(2): 5-14, 2022.
Artigo em Inglês, Russo | MEDLINE | ID: mdl-35488557

RESUMO

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. In 24 patients (46 eyes), these parameters were assessed before the start of treatment and one year later. The treatment involved the mitochondria-targeted antioxidant SkQ1 - plastoquinonyl-decyl-triphenylphosphonium bromide (PDTP) in the form of eye drops. RESULTS: The main PVEP components for 1.0° and 0.3° were registered in 20% and in 14% of patient eyes with HON and high visual functions, respectively. After one year of PDTP use, a significant decrease in P100 peak latency was found only in the group with disease duration of ≤1.5 years as of the time of treatment start (p<0.05). Significant differences were observed in the PhNR amplitude (p<0.004) between patients of the main and the control groups, as well as in the PhNR amplitude between patients with visual acuity of ≤0.1 and ≥0.13 (p<0.01). Patients with high visual functions were found to have a correlation between the PhNR amplitude, GCC thickness and the global loss index (GLV). CONCLUSION: Along with VFT, OCT and color vision tests, electrophysiological studies are one of the main methods of examining patients with HON. After one year of PDTP use, there was a significant decrease in the FVEP P2 peak latency in the group with a disease duration of ≤1.5 years as of the time of treatment start. The PhNR amplitude in patients with high visual functions was found to correlate with structural changes in the ganglion cell layer and the retinal nerve fiber layer.


Assuntos
Potenciais Evocados Visuais , Doenças do Nervo Óptico , Eletrorretinografia/métodos , Humanos , Doenças do Nervo Óptico/diagnóstico , Doenças do Nervo Óptico/etiologia , Tomografia de Coerência Óptica , Testes de Campo Visual
3.
Vestn Oftalmol ; 137(5): 114-121, 2021.
Artigo em Russo | MEDLINE | ID: mdl-34726865

RESUMO

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. The article presents an example of using modern structural and functional diagnostic methods that helped diagnose the asymmetric form of the disease in a patient with suspected unilateral PR.


Assuntos
Eletrorretinografia , Retinose Pigmentar , Humanos , Retina/diagnóstico por imagem , Retinose Pigmentar/complicações , Retinose Pigmentar/diagnóstico , Tomografia de Coerência Óptica , Acuidade Visual
4.
Vestn Oftalmol ; 137(2): 34-40, 2021.
Artigo em Russo | MEDLINE | ID: mdl-33881261

RESUMO

Multifocal electroretinography (mfERG) helps evaluate the electrical potential of the retina in a set of points within 30 degrees. There is a significant number of factors affecting the value of mfERG data, which should be taken into account in research studies. PURPOSE: To evaluate the difference and nature of changes in the amplitude (P1) and latency (P1, L1) parameters of mfERG in monocular (MS) and binocular stimulation (BS) in individuals with anisochromoartiphakia. MATERIAL AND METHODS: The study included 24 patients aged 76.3±7.9 years with anisochromoartiphakia [one eye - IOL with yellow spectrum SN60AT (yIOL); the other is a transparent IOL - Rayacryl (trIOL)] comprising the main group, and 16 patients without artiphakia aged 51.6±4.6 years in the control group [one eye with the addition of a yellow light filter (YF) ZHS1 - a spectral analog of SN60AT, the other - without YF]. Recording of mfERG was done with MS and BS. Parameters under evaluation were DP1 (nV/deg2), amplitude P1 (mV) and latency LP1, LN1 (ms) in rings R1-R5. RESULTS: In general, when switching from one ring to another under both types of stimulation and spectral correction, all indicators decrease. DP1 and P1 in MS and BS in the control group (49.2±17.7 and 53.6±17.5 nV/deg2) compared to the main group were higher (42.9±15.0 and 47.7±17.3 nV/deg2), LP1 and LN1 were shorter (41.2±5.0 and 44.8±4.3 ms in the control group, 44.0±4.1 and 50.7±21.1 ms in the main group). There was a significant difference between DP1R3 and DP1R4 in the control group (p≤0.003-0.050). In the control group without YF, P1R2 under MS was statistically significantly higher than under BS (p≤0.028). LP1 of R1, R3, R5 in the intergroup comparison was statistically significantly shorter in the control group without YF and MS (p≤0.033) and with YF in R1-R3, R5 (p≤0.003-0.023). LP1R2, LP1R4 were statistically significantly higher with trIOL in the main group under MS (p≤0.015; 0.047) and with yIOL in LP1R1, LP1R4, and LR5 (p≤0.053). The intergroup comparison showed that in the main group with yIOL, LP1R5 was statistically significantly lower under MS than BS (p≤0.032). When comparing LN1 between the groups, the statistically significant difference under MS without YF was observed in R5 (p≤0.002), while the difference under BS was insignificant. For YF, the increase in LN1 was statistically significant for MS in R2 and R3 (p≤0.010; 0.037) and for BS - in R1, R2 and R4 (p≤0.037; 0.003; 0.020). The intergroup comparison revealed that in the control group without YF, LN1R2 was statistically significantly lower under MS than BS (p≤0.028), and in the main group with trIOL, LN1R3 under MS was statistically significantly lower than under BS (p≤0.041). CONCLUSION: In anisochromoartiphakia, spectral differences in the optical environment of the eye lead to changes in the parameters of mfERG in the form of a decrease in DP1 and elongation of LP1 and LN1 in comparison with healthy eye and non-spectral intraocular correction. MS or BS in mfERG does not have a significant impact on the character and value of these parameters. The use of a single-stage binocular recording of mfERG reduces the duration of the study, which is especially important when examining elderly patients.


Assuntos
Eletrorretinografia , Retina , Idoso , Idoso de 80 Anos ou mais , Biometria , Humanos , Pessoa de Meia-Idade , Retina/diagnóstico por imagem , Visão Ocular
5.
Vestn Oftalmol ; 136(4. Vyp. 2): 183-192, 2020.
Artigo em Russo | MEDLINE | ID: mdl-32880138

RESUMO

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). RESULTS: Comparison of the groups of IRD patients and groups according to the degree of RPE damage with the control group revealed an increase in differences in the EOG and gERG indicators as the area and depth of damage to the RPE and PR progressed. The patterns of changes in RPE and PR, the frequency of their occurrence with IRD in this patient sample are described. A moderate correlation was found between the amount of RPE loss and EOG light rise, as well as between the defect of the ellipsoid zone and the amplitude of α- and ß-waves, the latency of ß-wave of the gERG. Some patients showed a mismatch between a small defect of the ellipsoid zone and RPE with significant damage to the visual field and reduction of the EOG and gERG indicators. The obtained electrophysiological indicators revealed pathological changes in RPE and PR, more significant and widespread in some cases than it was shown with visualization methods. Weak and moderate correlations between visual acuity, and RPE damage and light sensitivity index with loss of ellipsoid zone were calculated. CONCLUSIONS: Modern methods of retinal examination can help obtain complete and versatile picture of morphological and functional state of the retina in IDR that supplement each other. EOG and gERG have capability to determine the degree of RPE and PR functions impairment including those cases when morphological studies are not sufficiently informative.


Assuntos
Epitélio Pigmentado da Retina , Retinose Pigmentar , Eletrorretinografia , Angiofluoresceinografia , Humanos , Retina , Tomografia de Coerência Óptica
6.
Vestn Oftalmol ; 135(5): 31-37, 2019.
Artigo em Russo | MEDLINE | ID: mdl-31714510

RESUMO

PURPOSE: To investigate the morphological and functional state of the outer and inner layers of the retina in patients with diabetes mellitus (DM) and nonproliferative diabetic retinopathy (NPDR), to determine the presence and nature of the relationships between structural and functional changes. MATERIAL AND METHODS: The study included 50 patients with subcompensated diabetes and NPDR and 40 people from the control group (healthy). All patients underwent OCT of the retina and optic nerve using RTVue-100 apparatus (Optovue, USA), as well as multifocal electroretinography (mfERG) and pattern electroretinography (PERG) on EP-1000 Multifocal device ('Tomey GmbH', Germany). RESULTS: When analyzing the results of OCT in patients with NPDR, a decrease in the total thickness of the retina and the thickness of its inner layers in the fovea and parafovea regions was found in comparison with the control group (p<0.001), thinning of the retinal ganglion cell (GCS) complex with increased focal losses (FLV) of up to 1.4% (Mann-Whitney test, p=0.001). In the group of patients with diabetes, there was a statistically significant decrease in the density and amplitude of P1 mfERG in all five 'rings' (Mann-Whitney test, p<0.001), increase in implicit time in the first 3 rings, decrease in P50 and N95 amplitude, increase in implicit time of N95 PERG (p=0.001) compared to the control group. CONCLUSION: The study revealed changes in the structure and functioning of the outer and inner layers of the retina in patients with NPDR, and established a reliable correlation between the morphological parameters (according to the OCT) and electrophysiological parameters (according to the mfERG and PERG data).


Assuntos
Retinopatia Diabética , Eletrorretinografia , Humanos , Retina , Células Ganglionares da Retina , Tomografia de Coerência Óptica
7.
Vestn Oftalmol ; 135(5. Vyp. 2): 267-271, 2019.
Artigo em Russo | MEDLINE | ID: mdl-31691671

RESUMO

INTRODUCTION: Retinitis pigmentosa (RP) is a degenerative retinal disease that leads to blindness. Recently, treatment methods based on new technologies have emerged. Among them is stem cells transplantation (SC). PURPOSE: To make a systematic evaluation of the results of control clinical studies of cellular technologies for the treatment of RP. MATERIAL AND METHODS: The key words - retinitis pigmentosa, stem cells, control study - were used to search literature databases PubMed (250), WOS (172), MEDLINE (32) for the last 5 years. According to preliminary criteria, 88 articles were selected, according to final criteria - 4 articles. A total of 25 patients with RP were found. Control points of the analysis were: baseline, 3 months and 12 months. Methods of analysis (events): visual acuity (VA) and flash electroretinogram (f-ERG). RESULTS: There was no VA increase in 15 (60%) of the blind (or with negligible vision of less than 20/1600 ENDRS) patients, and the f-ERG was unrecordable. In 10 patients (40%), VA improved from 0.1 to 0.4 logMAR and the amplitude of f-ERG increased at about 3 months after injection. At 12 months, the effect returned to the baseline values. CONCLUSION: The use of SC transplantation technology in RP helps achieve short-term (up to 3 months) positive changes in VA and f-ERG, which depend on the initial stage of RP and do not remain in the final stage. This evokes a question of repeated use of SC transplantation in the same patient.


Assuntos
Retinose Pigmentar , Células-Tronco , Eletrorretinografia , Humanos , Retina , Retinose Pigmentar/terapia , Acuidade Visual
8.
Vestn Oftalmol ; 135(4): 10-18, 2019.
Artigo em Russo | MEDLINE | ID: mdl-31573552

RESUMO

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 parallel sequencing of the coding sequences and adjacent areas of the introns of the ABCA4, ELOVL4, PROM1, CNGB3 genes. RESULTS: The p.G1961E mutation was detected in heterozygous state with missense mutations, splice site mutations, a frameshift duplication, and a nonsense mutation in 18 patients, a second mutation was not detected in 2 patients. The duration of the disease in 4 patients was 2-5 years, which made it impossible to assess the morphofunctional changes in dynamics. In 13 of the 16 patients with IRD duration of 29±14 years and p.G1961E mutation in the ABCA4 gene the course of the disease was relatively mild: visual acuity of 0.15±0.07, loss of visual acuity averaging 0.037±0.019 per year, absolute/relative scotoma within 5-20°, and 3.52±1.21 mm loss of ellipsoid photoreceptor zone in the macular area according to OCT. In 3 patients, including one without a second mutation in the ABCA4 gene, better pronounced changes were revealed. Multifocal electroretinogram was altered in all 20 cases. In 7 of the 8 patients with p.G1961E in the heterozygous state in combination with complex mutation p.[L541P;A1038V], as well as in 2 patients without a second mutation, full-field electroretinography (Ganzfeld; ffERG) had changes (abnormalities) of varying intensity. CONCLUSION: A frequent mutation in the ABCA4 gene - p.G1961E - is associated with a relatively mild course of IRD in 81% of cases, even in the presence of a second, severe mutation. However, in rare cases a more severe phenotype of the IRD in patients with p.G1961E mutation can be observed, which may be associated with other genetic factors. In patients with the p.G1961E mutation in heterozygous state with p.[L541P;A1038V], ffERG changes (abnormalities) were revealed.


Assuntos
Transportadores de Cassetes de Ligação de ATP/genética , Degeneração Macular , Doenças Retinianas , Genótipo , Humanos , Mutação , Fenótipo
9.
Vestn Oftalmol ; 134(6): 83-93, 2018.
Artigo em Russo | MEDLINE | ID: mdl-30721205

RESUMO

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 regulatory regions of the gene and the effect on the amino acid composition of the protein molecule. The article describes two clinical cases of patients with splice site mutations in the compound heterozygous state with missense mutations in the ABCA4 gene with various phenotypic manifestations, which demonstrate the importance of molecular genetic analysis in patients with IRD. Such analysis allows determination and accumulation of data on phenotype-genotype correlations that can help predict the disease course.


Assuntos
Degeneração Macular , Retinose Pigmentar , Transportadores de Cassetes de Ligação de ATP/genética , Humanos , Mutação , Linhagem , Fenótipo , Polimorfismo Genético
10.
Vestn Oftalmol ; 133(5): 69-75, 2017.
Artigo em Russo | MEDLINE | ID: mdl-29165416

RESUMO

The authors describe a case of severe glaucoma in the only seeing eye of a patient with venous circulation disturbance resulting from a chronic anal fissure complicated with progressive anal stenosis, severe sphincter spasm, and pain syndrome. The article presents the results of multiple clinical ophthalmological tests and instrumental examinations performed before and after surgical intervention that evidence the importance of venous circulation disturbances for glaucoma development.


Assuntos
Procedimentos Cirúrgicos do Sistema Digestório/métodos , Fissura Anal/complicações , Glaucoma de Ângulo Aberto , Hipertensão Intra-Abdominal/complicações , Adulto , Doença Crônica , Constipação Intestinal/etiologia , Constipação Intestinal/fisiopatologia , Feminino , Fissura Anal/diagnóstico , Fissura Anal/fisiopatologia , Fissura Anal/cirurgia , Glaucoma de Ângulo Aberto/diagnóstico , Glaucoma de Ângulo Aberto/etiologia , Glaucoma de Ângulo Aberto/terapia , Humanos , Período Pós-Operatório , Resultado do Tratamento
11.
Vestn Oftalmol ; 133(6): 59-68, 2017.
Artigo em Russo | MEDLINE | ID: mdl-29319670

RESUMO

AIM: to study the dynamics of recovery of electrophysiological parameters of the retina after surgical treatment of idiopathic macular hole (IMH) and to assess their relevance to functional prognosis of the operation. MATERIAL AND METHODS: The study included 118 patients (120 eyes) examined before and after successful IMH surgery. The patients underwent electroretinography (Ganzfeld and multifocal), static computed perimetry, and optical coherence tomography. They were also tested for the electrical sensitivity of the retina, lability of the visual analyzer, and critical fusion frequency. Postoperative functional parameters of the retina (electrophysiological included) were followed up at 1-2, 5-6, and 12-plus months and then compared to those obtained before surgery. Parameter dynamics, relationships, and the prognostic value of particular indicators were of interest. RESULTS: It was found that after successful restoration of retinal anatomy, functional parameters of the retina gradually improve and reach their maximum at 3 to 12 months, however, remain below the normal range in all cases. In 58 cases, postoperative visual acuity was 0.5 or higher (regarded as 'high postoperative visual acuity' - the HPVA group) and was accompanied by high density of foveal biopotential and foveal light sensitivity. In the HPVA group, the majority (62%) were patients with preoperative 'shift phenomenon' (a shift of the maximum of bioelectric potential from the fovea to parafovea and perifovea, its amplitude and density being supernormal for these retinal regions). CONCLUSION: Changes in electrophysiological and other functional parameters of the retina can be detected within 3-12 months after successful IMH surgery. Their recovery is not full and goes with a delay relative to restoration of retinal structure. The probability of high functional result of the operation, which includes an increase in visual acuity, foveal light sensitivity, and amplitude and density of foveal biopotential, is higher in patients with biopotential shift at baseline.


Assuntos
Retina , Perfurações Retinianas/cirurgia , Vitrectomia , Idoso , Fenômenos Eletrofisiológicos , Eletrorretinografia/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Período Pós-Operatório , Prognóstico , Recuperação de Função Fisiológica/fisiologia , Retina/diagnóstico por imagem , Retina/patologia , Retina/fisiopatologia , Fatores de Tempo , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Testes de Campo Visual/métodos , Vitrectomia/efeitos adversos , Vitrectomia/métodos
12.
Vestn Oftalmol ; 133(6): 50-58, 2017.
Artigo em Russo | MEDLINE | ID: mdl-29319669

RESUMO

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 markers and gene polymorphisms of the coagulation system. RESULTS: All patients were found to be exposed to two or more modifiable risk factors of ION. A total of 47.1% of cases were judged as being at anatomical risk of anterior ION (AION) with the cup-to-disc ratio in the second eye of less than 0.15 (of less than 0.25 in 53% of cases). Of 98 patients (185 eyes) with optic disc drusen, 5.4% of cases (10 eyes) developed AION. As many as 22% of ION patients were under 50 years of age. Of them, in 32% primary APS was diagnosed, in 3.6% - secondary (in the presence of SLE); all cases were positive for polymorphisms of the coagulation system that determine genetic predisposition to ION (indeed, the frequency of the latter was significantly higher in these patients than in the control group). CONCLUSION: Ischemic optic neuropathy is an optic nerve disorder that requires thorough medical history taking and comprehensive assessment of the patient in order to identify the causes and risk factors of this disease as well as accompanying pathologies.


Assuntos
Fatores de Coagulação Sanguínea/genética , Drusas do Disco Óptico , Disco Óptico , Neuropatia Óptica Isquêmica , Trombose , Adulto , Feminino , Estudo de Associação Genômica Ampla , Humanos , Masculino , Pessoa de Meia-Idade , Disco Óptico/irrigação sanguínea , Disco Óptico/diagnóstico por imagem , Disco Óptico/patologia , Drusas do Disco Óptico/sangue , Drusas do Disco Óptico/diagnóstico , Drusas do Disco Óptico/epidemiologia , Drusas do Disco Óptico/etiologia , Neuropatia Óptica Isquêmica/sangue , Neuropatia Óptica Isquêmica/diagnóstico , Neuropatia Óptica Isquêmica/epidemiologia , Neuropatia Óptica Isquêmica/etiologia , Medição de Risco/métodos , Medição de Risco/estatística & dados numéricos , Fatores de Risco , Federação Russa , Trombose/sangue , Trombose/complicações , Trombose/diagnóstico , Trombose/epidemiologia , Acuidade Visual
13.
Vestn Oftalmol ; 133(4): 4-11, 2017.
Artigo em Russo | MEDLINE | ID: mdl-28980559

RESUMO

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.G863A, p.L541P, p.A1038V, p.G1961E, and p.P1380L, was done in 54 patients with SD. In 25 patients, massive parallel sequencing of coding regions (exons) and neighboring introns of the ABCA4, ELOVL4, PROM1, and CNGB3 genes was also performed. RESULTS: Gene testing for 5 ABCA4 mutations showed that 50% of patients (27 patients) harbored one mutation and 13% - two mutations. At massive parallel sequencing (25 patients), two pathogenic alleles were found in 21 patients (84%), one mutation - in 23 patients (91.7%). The majority of mutations was accounted for by the ABCA4 gene (83% of all mutation-positive patients). CONCLUSION: Sequencing of exons and neighboring introns of the ABCA4, ELOVL4, PROM1, and CNGB3 genes with the new molecular genetic diagnostic system enabled confirmation of the diagnosis of SD in 84% of patients. High prevalence of p.L541P, p.A1038V, and p.G1961E mutations of the ABCA4 gene has been established.


Assuntos
Transportadores de Cassetes de Ligação de ATP/genética , Degeneração Macular/congênito , Adolescente , Adulto , Criança , Feminino , Predisposição Genética para Doença , Testes Genéticos/métodos , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Degeneração Macular/diagnóstico , Degeneração Macular/genética , Masculino , Mutação , Polimorfismo de Nucleotídeo Único , Segmento Externo da Célula Bastonete/patologia , Federação Russa , Doença de Stargardt
14.
Biochemistry (Mosc) ; 81(7): 748-54, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-27449621

RESUMO

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.3472T>C in the MT-ND1 (NADH-ubiquinone oxidoreductase chain 1) gene and specific changes in cell metabolism in a patient with LHON and his asymptomatic sister. To confirm the presence of mutation-related mitochondrial dysfunction, respiration of skin fibroblasts and platelets from the patient and his sister was studied, as well as the mitochondrial potential and production of reactive oxygen species in the skin fibroblasts. In addition, based on characteristics of the toxic effect of paraquat, a new approach was developed for detecting the functional activity of complex I of the mitochondrial respiratory chain.


Assuntos
DNA Mitocondrial/genética , NADH Desidrogenase/genética , Atrofia Óptica Hereditária de Leber/genética , Adulto , Plaquetas/citologia , Plaquetas/metabolismo , Células Cultivadas , Feminino , Fibroblastos/citologia , Fibroblastos/metabolismo , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , NADH Desidrogenase/metabolismo , Atrofia Óptica Hereditária de Leber/patologia , Consumo de Oxigênio/efeitos dos fármacos , Polimorfismo de Nucleotídeo Único , Espécies Reativas de Oxigênio/metabolismo , Rotenona/farmacologia , Análise de Sequência de DNA , Adulto Jovem
15.
Vestn Oftalmol ; 132(3): 42-48, 2016.
Artigo em Russo | MEDLINE | ID: mdl-27456564

RESUMO

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, static perimetry with a 60° field of view, electrophysiological studies, namely, ganzfeld and multifocal electroretinography (gERG and mfERG), autofluorescence, and optical coherence tomography (OCT). RESULTS: For analysis, the patients were divided into 3 groups depending on whether or not the structure of the IS/OS junction was damaged at OCT. A strong correlation has been found between the level of IS/OS damage and the MD index. There were no differences in foveal, perifoveal, or parafoveal retinal thicknesses. Retinal volumes within the 1-, 3- and 6-mm ring-shaped zones were also similar. All three groups showed a reduction in amplitudes of the major gERG waves and mfERG changes of different severity. The most frequent defect seen in all groups and the ring-shaped zones was a reduction in the amplitude and density of retinal biopotential (P1µv and P1 nv/deg2). CONCLUSION: A direct correlation exists between the extent and severity of structural changes in the IS/OS junction at OCT, visual functions assessed with perimetry, and disturbance of electrogenesis detected by mfERG and gERG.


Assuntos
Degeneração Macular/congênito , Células Fotorreceptoras de Vertebrados/patologia , Epitélio Pigmentado da Retina , Adulto , Visão de Cores , Diagnóstico Diferencial , Diagnóstico Precoce , Eletrorretinografia/métodos , Feminino , Humanos , Degeneração Macular/diagnóstico , Degeneração Macular/fisiopatologia , Degeneração Macular/terapia , Masculino , Seleção de Pacientes , Epitélio Pigmentado da Retina/patologia , Epitélio Pigmentado da Retina/fisiopatologia , Índice de Gravidade de Doença , Doença de Stargardt , Estatística como Assunto , Tomografia de Coerência Óptica/métodos , Testes de Campo Visual/métodos
16.
Vestn Oftalmol ; 132(6): 93-100, 2016.
Artigo em Russo | MEDLINE | ID: mdl-28121305

RESUMO

AIM: To investigate the nature and range of electrophysiological disturbances in idiopathic macular hole (IMH) and establish their relationship with structural parameters of the retina. MATERIAL AND METHODS: The study included 249 patients (280 eyes) with IMH. All of them underwent ganzfeld and multifocal electroretinography (ERG), optical coherence tomography, and evaluation of retinal electrical sensitivity and analyzer lability. The results were then compared to those of non-IMH patients (196 paired eyes) and controls (25 people, 49 eyes). RESULTS: Multifocal ERG findings prove that IMH is always associated with significant changes in bioelectrical potential of the central retina. In 62% of cases its decreased density and extended latency were registered in not only the fovea, but also the para- and perifovea. In 8% of cases the changes involved everything within a 30-degree area of the central retina. In 30% of cases the maximum bioelectric potential was found to have shifted from the centre to para- and perifovea, its amplitude and density being supernormal for these regions (shift phenomenon). A weak correlation between electrophysiological parameters and retinal thickness around the hole has been also established. CONCLUSION: Of all methods used to assess retinal function in IMH, multifocal ERG is the most informative. In 100% of cases foveal biopotential is sharply reduced in density and disfigured. In 70% of cases these changes spread outside the fovea.


Assuntos
Eletrorretinografia/métodos , Retina , Perfurações Retinianas , Tomografia de Coerência Óptica/métodos , Idoso , Pesquisa Comparativa da Efetividade , Fenômenos Eletrofisiológicos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Retina/diagnóstico por imagem , Retina/fisiopatologia , Perfurações Retinianas/diagnóstico , Perfurações Retinianas/fisiopatologia
17.
Vestn Oftalmol ; 131(2): 89-93, 2015.
Artigo em Russo | MEDLINE | ID: mdl-26080589

RESUMO

Visual impairment is often one of the earliest sings of Alzheimer's disease. This article reports a clinical case of a female patient diagnosed with mild dementia due to Alzheimer's disease. As revealed by a comprehensive examination, her visual fields and visual evoked potentials were markedly changed, while morphometric parameters of the retina and optic nerve appeared normal. Such a significant dissociation of structural and functional parameters may indicate a more proximal involvement of visual pathways in Alzheimer's disease.


Assuntos
Doença de Alzheimer/complicações , Doenças do Nervo Óptico , Retina , Vias Visuais , Idoso , Potenciais Evocados Visuais , Feminino , Humanos , Doenças do Nervo Óptico/diagnóstico , Doenças do Nervo Óptico/etiologia , Doenças do Nervo Óptico/fisiopatologia , Retina/patologia , Retina/fisiopatologia , Testes de Campo Visual , Vias Visuais/patologia , Vias Visuais/fisiopatologia
18.
Vestn Oftalmol ; 131(1): 82-89, 2015.
Artigo em Russo | MEDLINE | ID: mdl-25872391

RESUMO

OBJECTIVE: To evaluate clinical outcomes of cystoid macular edema (CME) developed after phacoemulsification with multifocal intraocular lens (IOL) implantation. MATERIAL AND METHODS: The article reports a favorable outcome of bilateral CME in a 66-year-old after bilateral phacoemulsification with Rayner M-flex Multifocal IOLs implantation. Optical coherent tomography (OCT) and multifocal electroretinography (mfERG) were used for follow-up. RESULTS: In the first eye CME developed 3 weeks after the surgery and required 1.5 years of treatment. In the fellow eye CME manifested 2 weeks after the surgery and resolved in six months under the treatment. The follow-up period was 5 and 2 years correspondingly. CONCLUSION: It is shown that retinal OCT is useful for distinguishing clinical forms of CME and is able to confirm positive effects of the treatment, whereas mfERG provides the opportunity to assess subtle mechanisms of retinal function recovery, which may take several years.


Assuntos
Lentes Intraoculares/efeitos adversos , Macula Lutea/patologia , Edema Macular/etiologia , Idoso , Eletrorretinografia , Seguimentos , Humanos , Edema Macular/diagnóstico , Masculino , Facoemulsificação/efeitos adversos , Complicações Pós-Operatórias , Tomografia de Coerência Óptica
19.
Vestn Oftalmol ; 130(4): 71-6, 78-80, 2014.
Artigo em Russo | MEDLINE | ID: mdl-25306728
20.
Vestn Oftalmol ; 130(2): 72-6, 2014.
Artigo em Russo | MEDLINE | ID: mdl-24864504

RESUMO

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.


Assuntos
Fundo de Olho , Degeneração Macular/congênito , Humanos , Degeneração Macular/classificação , Degeneração Macular/genética , Degeneração Macular/fisiopatologia , Doença de Stargardt
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