ABSTRACT
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%).
Subject(s)
Choroid Neoplasms , Hemangioma , Melanoma , Humans , Choroid Neoplasms/genetics , Choroid Neoplasms/diagnosis , Male , Female , Middle Aged , Diagnosis, Differential , Hemangioma/genetics , Hemangioma/diagnosis , Adult , Melanoma/genetics , Melanoma/diagnosis , GTP-Binding Protein alpha Subunits, Gq-G11/genetics , Mutation , Choroid/diagnostic imaging , Choroid/pathology , GTP-Binding Protein alpha Subunits/genetics , Prospective StudiesABSTRACT
Extended depth of focus (EDOF) intraocular lenses (IOLs) are the latest IOL designs. In recent years, several models of EDOF IOLs have become available in Russia, two of which (Tecnis Symfony and Acrysof IQ Vivity) are implanted in our clinic. Comparative studies devoted to the results of implantation of the new EDOF IOLs are rare in the available literature. PURPOSE: This article compares the outcomes of implantation of two EDOF IOLs in patients with presbyopia and/or cataract. MATERIAL AND METHODS: The prospective study included 60 patients (81 eyes) after implantation of EDOF IOL Tecnis Symfony (32 patients, 45 eyes; group 1) or EDOF IOL AcrySof IQ Vivity (28 patients, 36 eyes; group 2). The mean follow-up period was 3.9±1.3 months. RESULTS: All groups showed a significant (p<0.05) increase in uncorrected near visual acuity (UCNVA), intermediate visual acuity (UCIVA), and distance visual acuity (UCDVA) at the maximum follow-up time compared to preoperative values. In group 1, the best corrected near visual acuity (BCNVA) increased from 0.61±0.10 to 0.82±0.16 at the maximum follow-up time, and in group 2 - from 0.58±0.08 to 0.67±0.12 (p>0.05). Both groups showed a significant increase in best corrected intermediate and distance visual acuity (BCIVA and BCDVA) at the maximum follow-up time. The increase in the indicator compared to the preoperative period was not significant in both groups (p>0.05). The frequency of side optical phenomena was low in both groups. No significant differences were found between the groups (p>0.05). CONCLUSION: This study presents a comparative analysis of the results of implantation of two different EDOF IOLs. Both lenses were comparable in most of the studied parameters, including providing good distance and intermediate vision, functional near vision, as well as a low frequency of side optical phenomena. In all cases the patients were satisfied with the results of the surgical intervention.
Subject(s)
Lens Implantation, Intraocular , Lenses, Intraocular , Presbyopia , Visual Acuity , Humans , Male , Female , Lens Implantation, Intraocular/methods , Middle Aged , Presbyopia/surgery , Presbyopia/physiopathology , Prosthesis Design , Prospective Studies , Aged , Treatment Outcome , Cataract/physiopathology , Cataract/diagnosis , Refraction, Ocular/physiology , Depth Perception/physiology , RussiaABSTRACT
Considering the limited information about the role of hereditary predisposition to the development of uveal melanoma, we have performed an analysis of the frequencies of BARD1 (rs1048108, rs2229571, rs2070094) and BRIP1 (rs4986764) gene polymorphisms in patients with uveal melanoma and benign choroidal nevus in comparison with healthy volunteers (control). It has been found that the minor alleles of BRIP1 rs4986764 and BARD1 rs2070094 polymorphisms, as well as the homozygosity of T allele at the BARD1 rs1048108 locus are common genetic markers for the predisposition to uveal melanoma and benign choroidal nevus, while the homozygous genotype GG for the BARD1 rs2229571 polymorphism is a specific marker for the predisposition to uveal melanoma and progressive choroidal nevus. We have also found that the heterozygous genotype at BARD1 rs1048108 polymorphic locus is a specific marker for protection against uveal melanoma and progressive choroidal nevus. Thus, our results indicate the advisability of studying polymorphisms of the BARD1 gene (rs1048108, rs2229571, and rs2070094) and the BRIP1 gene (rs4986764) in patients with uveal melanoma and progressive choroidal nevus. The obtained findings can be used for forming risk groups, prevention of uveal melanoma, and differential diagnosis of intraocular neoplasms.
Subject(s)
Choroid Neoplasms , Nevus , Uveal Neoplasms , Humans , Case-Control Studies , Uveal Neoplasms/genetics , BRCA1 Protein/genetics , Polymorphism, Single Nucleotide/genetics , Tumor Suppressor Proteins/genetics , Ubiquitin-Protein Ligases/geneticsABSTRACT
In recent years, a new class of extended depth of focus (EDOF) intraocular lenses (IOLs) has become available on the market. There is only a limited number of scientific papers comparing trifocal and EDOF IOL data, and the results are often contradictory. PURPOSE: Comparative analysis of the results of trifocal and EDOF IOL implantation in patients with presbyopia and/or cataract. MATERIAL AND METHODS: This prospective study included 72 patients (144 eyes) after bilateral implantation of either Tecnis Symfony EDOF IOL (18 patients, 36 eyes; group I) or AcrySof PanOptix trifocal IOL (54 patients, 108 eyes; group II). In 18 patients out of 72 (25%) the implantation involved mini-monovision, i.e. the calculation of the IOL power on the nondominant eye was performed at -0.5 D. The average follow-up period for the patients was 7.1±1.2 months. RESULTS: There was a significant (p<0.05) increase in uncorrected near visual acuity (UCNVA), uncorrected intermediate visual acuity (UCIVA) and uncorrected distance visual acuity (UCDVA) at the maximum follow-up time compared to the preoperative indices in all groups. Group II was characterized by slightly better UCNVA dynamics (0.85±0.13 versus 0.2±0.04 before surgery, as comparted to 0.78±0.11 versus 0.19±0.06 before surgery in group I), but differences were not statistically significant (p>0.05). Statistically significant differences (p=0.046) were observed when comparing best corrected near vision acuity (BCNVA) in groups I and II (0.79±0.05 and 0.98±0.08, respectively) at 6 months compared to the preoperative period (0.62±0.09 and 0.6±0.11, respectively). CONCLUSION: Trifocal IOL implantation was associated with acceptable near and far vision correction and a higher frequency of adverse optical phenomena, while implantation of the EDOF IOL was associated with slightly better correction of intermediate vision and a significantly lower incidence of halo and glare. Patients were satisfied with the outcomes of surgery in all cases.
Subject(s)
Lenses, Intraocular , Phacoemulsification , Humans , Lens Implantation, Intraocular/adverse effects , Lens Implantation, Intraocular/methods , Refraction, Ocular , Prospective Studies , Visual Acuity , Phacoemulsification/adverse effects , Prosthesis Design , Patient Satisfaction , PseudophakiaABSTRACT
The study presents clinical and genetic analysis of a case of unilateral multifocal uveal choroidal melanoma in a patient of 67 years. Results of ophthalmoscopy, echography, fluorescent angiography, optical coherence tomography are described. Molecular genetic testing of peripheral blood samples was performed, including detection of the occurrences of CC genotype in C3435T polymorphism of the gene ABCB1/MDR1 associated with unfavorable vital prognosis. Analysis of the genes GNAQ and GNA11 revealed two mutually exclusive mutations in the genes GNAQG183A and GNAQA209C showing genetic heterogeneity of the two tumor lesions. Organ preservation treatment of unilateral multifocal uveal melanoma was proven possible with brachytherapy method. Uveal melanoma with multicentric growth is of interest to ophthalmologists because it requires differential diagnostics from a variety of diseases including metastases in the choroid, such as metastases of uveal melanoma and skin melanoma, as well as other intraocular neoplasms.
Subject(s)
Melanoma , Uveal Neoplasms , DNA Mutational Analysis , GTP-Binding Protein alpha Subunits , GTP-Binding Protein alpha Subunits, Gq-G11 , Humans , Melanoma/genetics , Melanoma/pathology , Mutation , Polymorphism, Genetic , Uveal Neoplasms/genetics , Uveal Neoplasms/pathologyABSTRACT
At present, implantation of multifocal IOLs in patients with primary open-angle glaucoma (POAG) remains questionable. PURPOSE: To comparatively analyze the clinical and functional effectiveness of bifocal IOLs implanted during combined cataract and glaucoma surgery. MATERIAL AND METHODS: The prospective study included 41 patients (75 eyes) with presbyopia and POAG who underwent one-stage cataract phacoemulsification with implantation of a multifocal IOL and non-penetrating deep sclerectomy (NPDS) with lens capsule. Group 1 included 24 patients (44 eyes) with implantation of diffractive-refractive IOL. Group 2 consisted of 17 patients (31 eyes) who were implanted aspheric diffractive IOL with asymmetric optics. RESULTS: Mean IOP in both groups was 18.1±2.9 mmHg, and the difference with the preoperative parameters (26.1±2.8) was statistically significant (p<0.05). On average, the patients received 1.3±0.5 antihypertensive drugs compared to 2.4±0.61 before surgery (0.05
Subject(s)
Cataract , Lenses, Intraocular , Phacoemulsification , Humans , Lens Implantation, Intraocular , Prospective Studies , Prosthesis DesignABSTRACT
AIM: to analyze survival rates in uveal melanoma (UM) patients and establish correlations with chromosome 3 monosomy, chromosome 1p deletion, and RASSF1A methylation. MATERIAL AND METHODS: Methylation-specific PCR analysis was performed in 104 patients with histologically verified UM. RESULTS: A statistically significant correlation has been found between chromosome 3 monosomy, on the one hand, and mixed/epithelioid cell melanomas and ciliary body involvement, on the other. As for chromosome 1p deletion, it has demonstrated association with extrabulbar tumor growth. We have also calculated 5-year survival and mortality rates in «large¼ UMs and their relationship with chromosome 3 monosomy, chromosome 1p deletion, and RASSF1A methylation. CONCLUSION: Chromosome 3 monosomy is associated with lower survival rates, while RASSF1A methylation - with a better prognosis. A combination of molecular and genetic changes (particularly, chromosome 3 monosomy and chromosome 1p deletion) also leads to reduced survival in UM patients.
