Japanese Journal of Ophthalmology最新文献

Purpose: To characterize the clinical and genetic features of REEP6-associated retinopathy in 8 Japanese patients from 7 families STUDY DESIGN: Retrospective, multicenter cohort study METHODS: Biallelic REEP6 variants were identified by use of whole-exome sequencing in patients with inherited retinal dystrophy (IRD). Comprehensive ophthalmic assessments were performed in all the patients.

Results: Among a nationwide cohort of 2011 patients with IRD, 8 patients from 7 families were found to carry biallelic REEP6 variants. Four distinct variants were identified: c.223G>A, p.Glu75Lys; c.268G>C, p.Val90Leu; c.280_281del, p.Leu94ValfsTer86 (novel frameshift), and c.598+1G>A. Five families (Families 1-5) carried the compound heterozygous p.Val90Leu and c.598+1G>A variants. The other two had either homozygous c.598+1G>A (Family 6) or compound heterozygous p.Glu75Lys/p.Leu94ValfsTer86 (Family 7). In Families 1-5, the patients exhibited relatively mild phenotypes with limited to peripheral retinal degeneration in the younger patients and gradual posterior pole involvement in the older patients. Optical coherence tomography revealed well-preserved outer retinal layers at the macula, and good visual acuity was maintained even in some of the older patients. In contrast, the 2 patients in Families 6 and 7 exhibited more severe phenotypes, including macular atrophy and visual acuity decline.

Conclusions: The combination of p.Val90Leu and c.598+1G>A variants was associated with a milder phenotype, supporting the hypothesis that p.Val90Leu is a hypomorphic variant. These findings expand the clinical and genetic spectra of REEP6-associated retinopathy, particularly among East Asian populations.

Purpose: To investigate the distribution of axial length (AL) and the prevalence of long axial length (LAL) in Japanese children and adolescents.

Study design: cross-sectional observational study METHODS: We analyzed AL data from 14,482 participants (7,457 boys and 7,025 girls) aged 4-19 in the Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study in Japan. AL was measured using a non-contact optical axis measurement device. We evaluated the distribution of AL in the participants with box plots for age. Segmented regression identified age-related trends and breakpoints. We calculated the age-specific proportions of participants with AL ≥ 24.5 mm and those with AL ≥ 26 mm, defined as LAL, which were considered indicative of suspected myopia.

Results: Mean AL increased with age, with a break point at 11.73 years. The slope before the break point was β = 0.27, while the slope after the break point decreased to β = 0.12. Boys showed earlier break point (9.87 years) than girls (15.91 years). Proportions with AL ≥ 24.5mm and ≥26mm began to increase approximately at 8 and 10 years of age respectively, with sex differences noted between ages 7 to 10 years and 10 to 11 years.

Conclusion: This was the first large-scale AL survey in Japan and revealed the age and sex related distribution of AL and the proportion with LAL among Japanese children and adolescents aged 4 to 19 years.

Purpose: To investigate the incidence and clinical characteristics of malignant glaucoma (MG) following Preserflo MicroShunt (PMS) implantation.

Study design: Retrospective multicenter cohort study METHODS: We investigated 957 consecutive eyes that underwent PMS implantation between August 2022 and May 2025. In all eyes, patient age, sex, glaucoma subtype, preoperative intraocular pressure (IOP), medication score, axial length (AL), and use of intraluminal suture stenting (ISS) were examined. We identified cases in which MG developed postoperatively and compared age, preoperative IOP, medication score, and AL between the MG and non-MG groups. The timing of MG onset and treatment outcomes were also evaluated. After Bonferroni correction, the adjusted significance level was set at P<0.0125 (0.05/4).

Results: MG occurred in 4 eyes (0.42%) of 2 men and 2 women, with a median age of 85.5 years (interquartile range [IQR], 84-90 years). All eyes were diagnosed with exfoliation glaucoma (XFG). Patients in whom MG developed were significantly older (P=0.006) and had a significantly higher preoperative IOP (P=0.006) than those without MG. No significant differences in AL or medication score were observed between the groups. MG developed on postoperative days 2, 3, and 4 in 3 eyes without ISS. In 1 case with ISS, MG occurred 3 days after ISS removal, but not during ISS placement. All MG cases were successfully treated with irido-zonulo-hyaloido-vitrectomy, with or without pars plana vitrectomy.

Conclusions: Although rare, MG can occur in the early postoperative period after PMS implantation, particularly in older patients with a high preoperative IOP.

Purpose: To assess the efficacy of trabecular micro-bypass stents (IS) versus ab interno trabeculotomy (LOT) performed alongside cataract surgery; and to ensure patient comparability across both surgical groups concerning age, intraocular pressure (IOP), medication score, and disease type.

Study design: Retrospective cohort METHODS: Overall, 194 eyes were assessed from 107 Japanese patients with open-angle glaucoma or exfoliation glaucoma who received IS plus cataract surgery at Saitama Red Cross Hospital between July 2017 and January 2022. Another 88 eyes were assessed from 58 patients who underwent combined LOT and cataract surgery at the same hospital between January 2018 and December 2019. Both cohorts were followed-up for ≥6 months. Propensity scoring facilitated between-group patient background matching. Overall, 62 eyes per group matched for preoperative characteristics were analyzed.

Results: Six-month postoperative IOP was 14.50 ± 2.26 and 14.08 ± 2.50 mmHg for IS and LOT, respectively, with medication scores of 1.50 ± 1.17 (IS) and 1.71 ± 1.60 (LOT), indicating no significant differences. The IOP reduction rate was 19.03 ± 13.34% (IS) and 18.94 ± 23.26% (LOT), showing no significant difference. Both groups exhibited similar medication score reductions (-1.11 ± 1.04 [IS], and -0.92 ± 1.47 [LOT]). Preoperative IOP significantly correlated with IOP reduction rate in both procedures. LOT patients experienced more hyphema postoperatively, versus IS patients.

Conclusion: In eyes with relatively well-controlled preoperative IOP-where either IS or LOT could be reasonably selected-either procedure offers similar surgical outcomes, with comparable postoperative performance and complication rates, except for postoperative hyphema.

Purpose: To investigate 10-year changes in risk factors associated with treatment required for retinopathy of prematurity (ROP) in extremely low birth weight infants.

Study design: Retrospective cohort study.

Methods: Data for extremely low birth weight infants born in 2011 (Group 1) and those born in 2020-2021 (Group 2) were extracted from the Neonatal Research Network of Japan, with a total of 564 cases. The frequency of ROP treatment-related risk factors and results of multivariate analyses were compared between the two groups. Missing data in covariates were handled using multiple imputation.

Results: Group 2 had a significantly lower birth weight (p=0.038), gestational age (p=0.037), and Apgar scores (p<0.001), than Group 1. The frequencies of resuscitation with intubation (p=0.030), oxygen therapy beyond 36 weeks' postmenstrual age (p<0.001), chronic lung disease (p=0.012), gastrointestinal perforation (p=0.030), and red blood cell transfusion (p=0.018) were higher in Group 2 than in Group 1. However, the incidence and treatment rate of ROP decreased over time. The multivariate analysis shows that mechanical ventilation for 60 days or more is a strong independent risk factor for ROP treatment in Group 1, but this effect disappeared in Group 2.

Conclusion: Birth weight and gestational age of extremely low birth weight infants born in Tokyo have decreased significantly compared with 10 years previously, and the severity of ROP has not increased. Advances in respiratory management may have contributed to reducing the risk of developing severe ROP.

Purpose: To evaluate carotid cavernous fistula (CCF) ocular manifestations and outcomes and analyze predictors for clinical recovery within a 1-year follow-up period.

Study design: Retrospective cohort study.

Methods: Patients diagnosed with CCF were included. Clinical characteristics, visual acuity (VA), and intraocular pressure (IOP) were reviewed at baseline and at 1, 3, 6, and 12 months after treatment.

Results: Of the 141 eyes with CCF (133 patients), 45 and 96 were direct and indirect CCF, respectively. The most common ocular manifestations for both fistula types were dilated episcleral vessels (90.8%) and proptosis (75.9%). Embolization was performed in 43 (95.6%) and 51 (53.1%) eyes with direct and indirect CCF, respectively. The complete recovery rate from both CCFs at 1-year postembolization was 73.9%, whilst the recovery rate from the indirect type at 1-year postconservation was 21.2%. Factors predicting complete recovery included symptom duration of ≤30 days for direct CCF (adjusted odd ratio [aOR] = 7.77, P = .003) and embolization for indirect CCF (aOR = 3.63, P = .012). Overall, the VA significantly improved at 6 months after sole embolization (P <.05). Final good VA (≥20/40) and IOP (≤21 mm Hg) were attained in 64.0% and 96.9% of the cases, respectively. Initial VA of >20/200 (aOR = 38.78, P <.001) and age (aOR = 0.95, P <.001) were significantly associated with good final visual outcomes in both CCF types.

Conclusion: Patients with CCF required long-term follow-up of clinical recovery. Visual acuity at initial presentation and age should be considered for visual outcome prediction. Prompt diagnosis of direct fistula within 1 month and early embolization of indirect CCF can prevent residual symptoms following treatment.

Purpose: To compare visual function between pseudophakic eyes with enhanced monofocal intraocular lenses (IOLs) and phakic eyes with clear lenses among patients in their 50s, 60s, and 70s.

Study design: Prospective comparative study.

Methods: One hundred thirty-eight eyes with enhanced monofocal IOLs (enhanced monofocal group) and 117 phakic eyes with clear lenses (phakic group) among patients in their 50s-70s were enrolled. Distance-corrected visual acuity (VA) at various distances, and photopic and mesopic contrast VA were evaluated at 2 months postoperatively and compared between groups.

Results: In all age categories (50 s, 60 s, and 70 s), mean distance-corrected VA at the distances examined did not differ significantly between the enhanced monofocal and phakic groups. Mean contrast VA tended to be better in the enhanced monofocal group than in the phakic group. The difference was significant for photopic low contrast VA at 5% contrast in participants in their 50s (P = 0.002); mesopic contrast VA (P < 0.001) in participants in their 60s; and for photopic contrast VA at 10% and 5% contrasts and as well as mesopic contrast VA at 25% and 10% contrasts in participants in their 70s (P ≤ 0.003).

Conclusions: Among patients in their 50 s, 60 s, and 70 s, the accommodative range did not differ significantly between eyes with enhanced monofocal IOL and phakic eyes with clear lenses. Contrast sensitivity was generally better in eyes with enhanced monofocal IOLs than in phakic eyes, supporting the replacement of clear lenses with enhanced monofocal IOLs in patients of these ages with certain ocular pathologies.

Purpose: This study aimed to investigate differences in retinal blood flow leading to visual recovery in cases of macular detachment in rhegmatogenous retinal detachment (RRD).

Study design: Observational, retrospective case series.

Methods: We studied 64 eyes diagnosed with unilateral RRD with macular detachment that underwent pars plana vitrectomy from May 2010 to July 2015 at the Department of Ophthalmology, Nagasaki University Graduate School of Biomedical Sciences. We retrospectively measured visual acuity, blood pressure, intraocular pressure, and retinal blood flow using laser speckle flowgraphy (LSFG) preoperatively and at 1, 3, 6, and 12 months postoperatively.

Results: LogMAR visual acuity significantly improved one month after surgery (p<0.001. Friedman test with post-hoc test Bonferroni correction). The average mean blur rate (MBR) significantly improved three months after surgery compared to before surgery (95.9±26.0%, p<0.001). A significant correlation was observed between logMAR visual acuity and MBR changes at 1 month (r=- 0.42, p=0.007), 3 months (r=- 0.46, p=0.003), 12 months (r=- 0.32, p=0.03).

Conclusion: When vitrectomy is performed for RRD, the retina is repositioned, resulting in significant improvements in visual acuity and retinal blood flow.

Translational relevance: Visual acuity recovery is correlated with the recovery of retinal blood flow.

Purpose: To determine whether retro-mode scanning laser ophthalmoscopy (RMSLO) can detect optic disc abnormalities in highly myopic eyes.

Study design: A retrospective clinical study.

Methods: Patients with high myopia who had undergone RMSLO imaging and optic disc-centered optical coherence tomographic (OCT) examinations between July and September 2022 were studied. The existence and extent of the hyporeflective areas in the RMSLO images were determined. The OCT images were used to detect lamina cribrosa (LC) abnormalities, and the correspondence of the LC abnormalities to the location of the hyporeflective areas in the RMSLO images was determined.

Results: Thirty-eight eyes of 21 patients with high myopia were studied. The mean age of the patients was 58.6±12.3 years, and the mean axial length was 30.54±1.96 mm. Hyporeflective areas were detected on the optic nerve head in the RMSLO images in 37 eyes (97.4%). In these 37 eyes, OCT detected defects of the LC and enlarged LC pores corresponding to the hyporeflective areas. The maximum width of the LC abnormalities in the OCT images corresponded to the extent of the hyporeflective areas in the RMSLO images.

Conclusions: RMSLO can obtain images with hyporeflective areas on the optic disc in highly myopic eyes that correspond to areas of LC defects observed in the OCT images. RMSLO imaging can detect the enlarged LC pores as hyporeflective abnormalities. We conclude that RMSLO is helpful in detecting abnormalities of the LC of the optic disc.

Purpose: We explored the role of oxytocin in glaucoma by measuring the blood levels of oxytocin in glaucoma patients, comparing them to normal control subjects, and examining its association with clinical parameters.

Study design: Retrospective cross-sectional study.

Material and methods: After obtaining informed consent from 181 glaucoma patients and 44 age-matched control participants, we collected blood samples in ethylenediaminetetraacetic acid (EDTA) tubes and centrifuged them at 2000 g for 25 minutes at 4 °C. The resulting plasma was assayed for oxytocin concentration with an Enzyme Linked Immunosorbent Assay (ELISA) kit. We compared oxytocin concentrations in the control and glaucoma groups, and within the glaucoma group, we determined whether the oxytocin levels were correlated with mean deviation (MD) and sectoral total deviation (TD). Furthermore, in 33 patients who underwent at least five visual field tests over a two-year period following oxytocin measurements and received no surgical interventions during that time, we determined whether the oxytocin levels were correlated with MD slope and sectoral TD slopes.

Results: Oxytocin levels in glaucoma patients were significantly lower than in age- and sex-matched normal controls (723.34 ± 303.44 vs. 557.59 ± 296.04 pg/ml, p=0.002). In glaucoma patients, oxytocin levels were significantly correlated with MD and inferior TD after adjustment for age and sex (β=0.149, p=0.041; β=0.156, p=0.034, respectively). There was a weak negative correlation between oxytocin concentration and MD slope (β=-0.334, p=0.084) and a weak negative correlation with central TD slope (β=-0.405, p=0.039), adjusted for age, sex, and history of additional eye drops.

Conclusion: Oxytocin concentrations in glaucoma patients were significantly lower than in normal subjects and associated with the severity and progression of visual field defects. Given the wide variety of the pharmacological actions of oxytocin, it may be involved in the pathogenesis of glaucoma. Our results suggest that plasma oxytocin measurements may open a new avenue for glaucoma care.