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Here, we report early treatment outcomes of gene therapy for early onset retinitis pigmentosa (RP) (Leber congenital amaurosis) associated with biallelic RPE65 mutation in a 30-year-old female patient. Initially, her visual acuity (VA) was 20/200, and her visual field (VF) was severely constricted to the center in the left eye. Her electroretinography showed nearly extinct signals. Full-field stimulus threshold test (FST) revealed diminished dark-adapted light sensitivity. Voretigene neparvovec-rzyl (VN) is the first in vivo viral gene therapy agent to be approved. At 3 months after subretinal injection of VN in the left eye, VA, VF, and FST showed sustained improvement. She did not exhibit any signs of adverse effects from the treatment. Gene therapy for RP proved to be an effective and safe treatment in an advanced case of RPE65-associatied early onset RP. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate the therapeutic effects and safety of oral spironolactone (SPRL) in patients with central serous chorioretinopathy (CSC). Materials and Methods: The medical records and imaging data of patients diagnosed with CSC and treated with SPRL were retrospectively reviewed. Central macular thickness (CMT), subretinal fluid (SRF) height, subfoveal choroidal thickness (SFCT), and best-corrected visual acuity (BCVA) at baseline, at 1, 3, and 6 months, and at the last visit after the treatment were analyzed. Results: In total, 103 patients with 107 eyes were included. The mean age of the patients was 51.5±9.3 years, and 77 (72.0%) were male. The mean follow-up duration was 48.6±40.2 weeks. The mean duration of oral SPRL therapy was 15.5±13.4 weeks. CMT, SRF height, and SFCT improved significantly at 1, 3, and 6 months after SPRL therapy and at the last follow-up. BCVA, however, showed no significant change at any time point. The rate of complete resolution of SRF at 1 month was higher in those with chronic CSC than in those with acute CSC (21.1% vs. 6.0%, respectively). Recurrence occurred in 14 (13.1%) eyes after the complete resolution of SRF. Older age (p=0.001), a greater number of previous intravitreal bevacizumab injections (p=0.006), and poor initial visual acuity (p=0.048) were associated with recurrence. No permanent adverse effects were observed. Conclusion: Oral SPRL showed therapeutic benefits in patients with CSC in terms of SRF resolution, but relatively frequent recurrence was observed, especially in older patients. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate the expression of multiple chemokine receptors in peripheral blood T cells from patients with age-related macular degeneration (AMD). Materials and Methods: Peripheral blood mononuclear cells and/or aqueous humor were obtained from 24 AMD patients and 24 age- and sex-matched healthy controls. Chemokine receptor expression on T cells from peripheral blood was determined by multicolor flow cytometry. The levels of chemokines and cytokines in the aqueous humor from 12 AMD patients and six healthy controls were assessed. Results: AMD patients had increased expressions of CCR4 in CD4+ T cells (p=0.007) and CRTh2 in CD8+ T cells (p=0.002), and decreased expressions of CXCR3 in CD4+ T cells (p=0.029) and CXCR3, CCR5, and CX3CR1 in CD8+ T cells (p=0.005, 0.019, and 0.007, respectively). Monocyte chemoattractant protein-1 levels were increased in the aqueous humor from AMD patients (p=0.018), while the levels of interleukin (IL)-4 and IL-22 were significantly decreased compared to controls (p=0.018 and 0.041, respectively). Conclusion: The chemokine receptor profiles of T cells are altered in AMD patients compared to healthy controls without noticeable associations with chemokine levels in the aqueous humor. Further evaluation is needed to clarify the role of these alterations in AMD pathogenesis. [ABSTRACT FROM AUTHOR]

Purpose: To assess the estimate prevalence and risk factors for age-related maculopathy (ARM) in Seoul, Korea. Patients and Methods: We examined 9,530 subjects with, 40 years of age or older between January 2006 and December 2006 in Seoul, Korea. Subjects underwent fundus photography, clinical examinations (including blood analyses), and completed detailed questionnaires. Fundus images were graded according to definitions from the Wisconsin Age-Related Maculopathy Grading System. Results: ARM was present in 235 subjects, corresponding to an estimate prevalence of 2.46%. Hepatitis B infection (positive status for HBsAg and HBcAb), serum triglyceride levels and high density lipoprotein levels remained as significant risk factors after age-adjustment. Multivariate analyses showed that the prevalence of ARM was significantly higher in older subjects [odds ratio (OR) 1.134; 95% CI 1.114-1.154] and those who were seropositive for hepatitis B surface antigen (OR 2.566; 95% CI 1.519-4.335). Conclusion: The estimated prevalence of ARM was 2.46%. Age and hepatitis B infection may increase the risk of ARM. [ABSTRACT FROM AUTHOR]