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Purpose To explore the frequency and positions of genetic mutations in CYP1B1 and FOXC1 in a Japanese population. Study design Molecular genetic analysis. Methods Genomic DNA was extracted from 31 Japanese patients with childhood glaucoma (CG) from 29 families. We examined the CYP1B , FOXC1 , and MYOC genes using Sanger sequencing and whole-exome sequencing (WES). Results For CYP1B1 , we identified 9 families that harbored novel mutations, p.A202T, p.D274E, p.Q340*, and p.V420G; the remaining mutations had been previously reported. When mapped to the CYP1B1 protein structure, all mutations appeared to influence the enzymatic activity of CYP1B1 by provoking structural deformity. Five patients were homozygotes or compound heterozygotes, supporting the recessive inheritance of the CYP1B1 mutations in CG. In contrast, four patients were heterozygous for the CYP1B1 mutation, suggesting the presence of regulatory region mutations or strong modifiers. For the FOXC1 gene, we identified 3 novel mutations, p.Q23fs, p.Q70R, and p.E163*, all of which were identified in a heterozygous state. No mutation was found in the MYOC gene in these CG patients. All individuals with CYP1B1 and FOXC1 mutations were severely affected by early-onset CG. In the CYP1B1- , FOXC1- , and MYOC- negative families, we also searched for variants in the other candidate genes reported for CG through WES, but could not find any mutations in these genes. Conclusions Our analyses of 29 CG families revealed 9 families with point mutations in the CYP1B1 gene, and four of those patients appeared to be heterozygotes, suggesting the presence of complex pathogenic mechanisms. FOXC1 appears to be another major causal gene of CG, indicating that panel sequencing of CYP1B1 and FOXC1 will be useful for diagnosis of CG in Japanese individuals.

Background: To evaluate the effects of preoperative topical ripasudil, a Rho-associated protein kinase (ROCK) inhibitor, on Schlemm’s canal (SC) morphology in patients with primary open-angle glaucoma (POAG). Methods: This study included 95 SC specimens obtained during trabeculectomy from 95 patients with POAG. Based on preoperative treatment, patients were divided into two groups: ripasudil (−) group (n = 68) receiving four topical medications [FP receptor agonist, β-blocker, carbonic anhydrase inhibitor (CAI), and α2 agonist], and ripasudil (+) group (n = 27) receiving the same four medications plus ripasudil. SC morphology parameters were assessed in thrombomodulin (TBM)-stained sections, including length parameters [TBM-positive/negative and opened/closed SC lengths] and area parameters [TBM-positive/negative and opened SC areas]. Between-group comparisons were performed using unpaired t-tests, and multiple regression analysis was conducted to adjust for age, gender, preoperative intraocular pressure (IOP), and oral CAI use. Results: The ripasudil (+) group had significantly longer total SC length (TSC: 302.5 µm) than the ripasudil (−) group (273.0 µm, p = 0.023). Among area parameters, the ripasudil (+) group showed significantly larger opened SC area (OSC-A: 2689 µm2 vs. 1881 µm2, p = 0.008) and TBM-negative opened SC area (NOSC-A: 716 µm2 vs. 305 µm2, p = 0.001), whereas TBM-positive opened SC area (POSC-A) was not significantly different between groups (2001 µm2 vs. 1575 µm2, p = 0.096). After multivariate adjustment, ripasudil use remained significantly associated with longer TSC (p = 0.011) and larger OSC-A (p = 0.014) and NOSC-A (p = 0.001). Conclusions: Preoperative use of topical ripasudil was associated with preservation of SC lumen morphology, particularly in regions lacking SC endothelium. These findings provide a theoretical basis for therapeutic strategies employing ROCK inhibitors to maintain SC morphology and function.

Background To investigate the outcome of non-valved glaucoma drainage implant surgery (GDIS) in primary open-angle glaucoma (POAG) patients divided in the first GDI group (patients who underwent the first GDIS) and the second GDI group (patients who underwent the second GDIS because of the failed first GDIS). Methods Intraocular pressure (IOP), visual acuity (VA), visual field defect (VFD), medication score (MS), survival rate of GDIS, complications, and patient background was retrospectively analyzed. Two success criteria were set: Criteria (1) IOP reduction ≥ 20% and 5 < IOP ≤ 21, Criteria (2) IOP reduction ≥ 20% and 5 < IOP ≤ 14. Results There were 136 eyes of 109 patients in the first GDI group and 32 eyes of 27 patients in the second GDI group. In the first GDI group and II, mean preoperative IOP was 26.7 ± 6.7 mmHg and 23.7 ± 3.5 mmHg, respectively ( P  = 0.09). No statistically significant difference in postoperative IOP reduction was found between the two groups ( P  = 0.39). At 5-years postoperative, the Criteria 1 (Criteria 2) survival rate in the first GDI group and the second GDI group was 60.4% (31.7%) and 61.2% (25.6%), respectively (Criteria 1: hazard ratio [HR]: 0.64, 95% confidence interval [CI]: 0.30–1.35 [ P  = 0.24]; Criteria 2: HR: 0.81, 95% CI: 0.46–1.44, P  = 0.48). No significant difference in VA, VFD change, MS, or complications was observed. Young patient age was the only significant factor for failure in the first GDI group (odds ratio: 0.95, 95% confidence interval: 0.91-1.00, P  = 0.03). Conclusion The second GDIS may be as effective as the first GDIS for IOP reduction in POAG patients, however, there is a high risk of failure in young-age patients and the surgery may be ineffective in eyes requiring Criteria 2.

Purpose To evaluate the efficacy of long-tube shunt surgery (LTSS) without valve in uveitic glaucoma (UG) eyes. Methods We retrospectively analyzed the data of 45 UG eyes that underwent only LTSS or LTSS combined with trabeculectomy (TLE) (LTSS/TLE). The UG eyes were analyzed by categorizing them into granulomatous/non-granulomatous, steroid responder/non-responder, and primary open-angle glaucoma (POAG) (POAG background)/non-POAG (non-POAG background). All granulomatous UG eyes received a continuous 3-times-daily administration of topical betamethasone post-LTSS. Results The eyes consisted of granulomatous (37 eyes, 82%)/non-granulomatous (5 eyes, 11%), steroid responder (19 eyes, 42%)/non-steroid responder (13 eyes, 29%), and 20 eyes with POAG or POAG background ( p  = 0.0022, 83%) among 24 cases of unilateral UG. The 5-year survival rates of only LTSS and LTSS/TLE were 66% and 100%, respectively. Kaplan–Meier survival-curve estimates in the non-granulomatous group were 100% for 6-year postoperative period, while the granulomatous group showed a gradual decrease along the 6-year (81%) postoperative period. The 5-year survival rates in the steroid responder group and the non-steroid responder group eyes were 74% and 78%, respectively. No intraocular pressure (IOP) elevation was observed in the positive steroid responder eyes post-LTSS. Conclusions LTSS and LTSS/TLE were both effective in UG. Positive steroid response may be masked by LTSS in the positive responder eyes. Continuous administration of topical betamethasone post-LTSS may be important for preventing an IOP spike by suppressing inflammation in the anterior chamber. LTSS combined with TLE may be recommended in eyes with granulomatous UG, and the coexistence of a POAG/POAG background.

The purpose was to investigate the efficacy and complications of nonvalved glaucoma drainage implant (GDI) surgery and GDI combined with trabeculectomy. Serial Japanese patients who received GDI were retrospectively investigated. The survival rate of eyes was analyzed using the Kaplan-Meier method, defining death as: (1) Intraocular pressure (IOP) <6 mmHg, or ≥22 mmHg, and <20% reduction of preoperative IOP, (2) additional glaucoma surgery, (3) loss of light perception. Prognostic factors of age, sex, previous surgery, type of glaucoma, synechial closure, preoperative IOP, type of GDI (single-, double-plate Molteno, Baerveldt 350) and GDI combined with trabeculectomy were investigated employing proportional hazards analysis. One hundred and twenty-four eyes of 109 patients aged 53.3 ± 7.8 years old were analyzed. Types of GDI were single-plate (15.3%), double-plate Molteno (71.8%), and Baerveldt 350 (12.9%). The results of survival rate analysis were 86.1, 71.1, 71.1, and 64.6% for 1, 3, 5, and 10 years respectively. Thirty-four eyes (27.4%) died because of uncontrolled IOP (19.4%), loss of light perception (5.6%), and additional glaucoma surgery (2.4%). Single-plate Molteno was the only risk factor for failure. Persistent unphysiological hypotony (0.8%) and bullous keratopathy (5.6%) were observed. Nonvalved GDI surgery and GDI combined with trabeculectomy using nonabsorbable tube ligature proved to be an excellent device for any type of glaucoma in Japanese patients. Hypotony and corneal endothelial loss are the most serious complication in the long-term results of our patients.

Purpose. To evaluate the effects of pars plana vitrectomy (PPV) on recurrent macular edema due to branch retinal vein occlusion (BRVO) after intravitreal injections of bevacizumab (IVB). Methods. This retrospective study included 22 eyes of 22 patients who underwent single or multiple IVB injections for macular edema due to BRVO and showed a recurrence of macular edema. All patients then underwent PPV and were followed up for more than 6 months after the surgery with examinations of best corrected visual acuity (BCVA) and optical coherence tomography (OCT). OCT parameters were central macular thickness (CMT) and average retinal thickness in a 1-mm-diameter circular region at the fovea (MRT). Results. Mean BCVA, CRT, and MRT were significantly improved from the baseline after PPV. Greater improvement of BCVA, CRT, and MRT was obtained after 1 month of IVB than after 6 months of PPV. No eyes showed worsening of macular edema after the surgery. Conclusion. PPV improved BCVA and recurrent macular edema due to BRVO, but PPV that was less effective than IVB had been in the same patients. PPV may be one of the treatment options for recurrent macular edema due to BRVO after IVB.

We analysed the effects of Quercus crispula acorn abundance on the density dependence of the large Japanese wood mouse Apodemus speciosus using time series data (1992-2007). The data were obtained in a forest in northern Hokkaido, Japan, by live-trapping rodents and directly counting acorns on the ground. Acorn abundance in one year clearly influenced the abundance of wood mice in the following year in all models examined based on the Gompertz and Ricker model; in addition, the abundance of wood mice had effects on the population. Acorn abundance influenced the strength of density dependence (intraspecific competition) of the wood mouse population. When the abundance of acorns was high, density dependence was relaxed, and as a result the equilibrium density at which the population growth rate decreased to zero became higher. Those effects of acorn abundance were regarded as a nonlinear perturbation effect (sensu Royama 1992). The nonlinearity of density dependence was also detected; higher densities had stronger effects on population growth rates.

The density of stromal nerve trunks and their branches was determined at the peripheral and the central areas of the four corneal quadrants in the Long-Evans hooded rat by using a nonspecific cholinesterase histochemical reaction. It was found that the density of stromal innervation is the same in the different quadrants and in the 2 eyes of the same animal. However, the density of stromal innervation was higher at the periphery that at the center of the cornea. The study provides quantitative information on the density of corneal stromal innervation in a commonly used laboratory animal. These data were unavailable in the literature, and can be used as a baseline for experimental studies.