Next-generation sequencing analysis of the ARMS2 gene in Turkish exudative age-related macular degeneration patients.

Age-related macular degeneration (AMD) is the leading cause of blindness in developed countries. It is a complex disease with both genetic and environmental risk factors. To improve clinical management of this condition, it is important to develop risk assessment and prevention strategies for environmental influences, and establish a more effective treatment approach. The aim of the present study was to investigate age-related maculopathy susceptibility protein 2 (ARMS2) gene sequences among Turkish patients with exudative AMD. In addition to 39 advanced exudative AMD patients, 250 healthy individuals for whom exome sequencing data were available were included as a control group. Patients with a history of known environmental and systemic AMD risk factors were excluded. Genomic DNA was isolated from peripheral blood and analyzed using next-generation sequencing. All coding exons of the ARMS2 gene were assessed. Three different ARMS2 sequence variations (rs10490923, rs2736911, and rs10490924) were identified in both the patient and control group. Within the control group, two further ARMS2 gene variants (rs7088128 and rs36213074) were also detected. Logistic regression analysis revealed a relationship between the rs10490924 polymorphism and AMD in the Turkish population.

Effect of ARMS2 gene polymorphism on intravitreal ranibizumab treatment for neovascular age-related macular degeneration.

Age-related macular degeneration (AMD) is a leading cause of blindness in developed countries. The ARMS2 gene has been found to be associated with AMD. Currently, intravitreal ranibizumab (IVR) treatment is one of the widely used treatments for neovascular AMD. The aim of this study was to investigate the association between the genotype of ARMS2 rs10490924 polymorphism and IVR treatment responsiveness in patients with neovascular AMD. The study included 39 patients with advanced neovascular AMD (patient group) and 250 healthy individuals with exome sequencing data (control group). The patient group was divided into three subgroups: GG (N = 10), TG (N = 14), and TT (N = 15). Before IVR treatment, all patients had intraretinal or subretinal fluid or both. They received three monthly IVR-injection treatments. One month after the third injection, the patients were evaluated as either "responders" or "non-responders" based on the presence or absence of intraretinal or subretinal fluid or both. The patient subgroups TG and TT had an 8.56- and 39-fold higher risk of AMD, respectively, than patient subgroup GG had. The allele frequency was 0.537 and 0.10 in the patient and control groups, respectively. Within the patient subgroup TT, there was a significant difference between the "responders" and "non-responders" (P = 0.025). In conclusion, in neovascular AMD patients undergoing IVR treatment, TT genotype tended to be a better predictor of good short-term treatment response, compared to the GG and TG genotypes. Further studies using confirmed genetic biomarkers for individualized optimal treatments are required.

Analysis of ELOVL4 and PRPH2 genes in Turkish Stargardt disease patients.

Stargardt disease (STGD) is an inherited genetic eye condition involving bilateral macular dystrophy leading to progressive central vision loss. It is the most common form of autosomal recessive juvenile macular dystrophy. In this study, ELOVL4 and PRPH2 genes were analyzed in 30 STGD probands for genetic variations using next-generation sequencing. In the patient group, two genetic variants in exon 6 of ELOVL4, and three in exon 3 of PRPH2 were detected. All sequence modifications in both ELOVL4 and PRPH2 were recorded, including those of a non-pathogenic nature. In the control group, four different genetic variations were detected in ELOVL4, and five in PRPH2. STGD patients of different ethnicities may carry distinct ELOVL4 and PRPH2 sequence variants. We believe that the genetic variations identified in this study may be related to STGD etiopathogenesis.

Pars plana vitrectomy and removal of the internal limiting membrane in diabetic macular edema unresponsive to grid laser photocoagulation.

PURPOSE: To evaluate the effectiveness of pars plana vitrectomy (PPV) with removal of the internal limiting membrane (ILM) in diabetic patients with macular edema unresponsive to grid laser photocoagulation. METHODS: In this randomized controlled study, 20 eyes of 10 patients with diabetic macular edema unresponsive to grid laser photocoagulation were evaluated. PPV with ILM removal was performed randomly in one eye each of 10 patients and taken as the study group; the untreated fellow eyes were taken as the control group. Main outcome measures were foveal thickness changes measured with optical coherence tomography and preoperative and post-operative visual acuity. Mann-Whitney U, Wilcoxon, and chi-square tests were used in statistical analysis. RESULTS: The mean age of the patients was 61.5+/-6 years (range 51 to 71). All patients were followed up for 12 months. In the study group, mean foveal thickness was 391.3+/-91.6 microm preoperatively and 225.5+/-49.4 microm postoperatively (p=0.009). In the control group, mean foveal thickness was 356.2+/-140 microm at baseline and 318.4+/-111.1 microm at 12-month follow-up (p=0.138). Mean decrease in foveal thickness was 165.8+/-114.8 microm in the study group and 37.8+/-71.2 microm in the control group (p=0.016). In the study group, best-corrected log-MAR visual acuity was 0.71+/-0.43 preoperatively and 0.54+/-0.45 postoperatively (p=0.125). In the control group, best-corrected logMAR visual acuity was 0.43+/-0.44 at baseline and 0.59+/-0.55 at 12-month follow-up (p=0.235). In the study group, visual acuity improved by two or more lines in 4 eyes (40%) and remained stable in 6 eyes (60%). In the control group, visual acuity improved by two or more lines in 1 eye (10%) and decreased by two or more lines in 3 eyes (30%). CONCLUSIONS: PPV with ILM removal appears to be an effective procedure for reducing diabetic macular edema unresponsive to grid laser photocoagulation. A further study with a large number of patients is required to assess the effectiveness and safety of this procedure.