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Introduction: Macular hole is a rare complication in patients with retinitis pigmentosa that significantly reduces visual acuity. Although vitreous surgery for macular holes generally yields favorable outcomes, postoperative macular atrophy has been reported. We report the second case of retinitis pigmentosa in a patient who developed a 13-year progressive macular atrophy after macular hole surgery. Case Presentation: A 64-year-old Japanese woman, who had been diagnosed with retinitis pigmentosa at 52 years of age, presented to our hospital with blurred vision in her left eye. Phacovitrectomy of the left eye was performed after a full-thickness macular hole was revealed by optical coherence tomography. We stained the internal limiting membrane during surgery using 0.05% indocyanine green and peeled it around the macular hole. Nevertheless, slight atrophy of the retinal pigment epithelium appeared in the left macula 17 days after surgery. The macular hole closed 1 year after surgery, and the macular atrophy gradually became more apparent and enlarged. Thirteen years later, atrophy had expanded to 2.5-disc diameters, and the left decimal best-corrected visual acuity was 0.1; no macular degeneration appeared in the right eye. Genetic examination revealed compound heterozygous variants in the EYS gene. Conclusion: Macular atrophy can develop after dye-assisted macular hole surgery for patients with retinitis pigmentosa. Potential risk factors for the development of postoperative macular atrophy include dye toxicity, light toxicity, surgical intervention in the macula, postoperative inflammation, and genotype. However, the exact cause of atrophy remains uncertain.

Purpose This study aimed to investigate longitudinal changes in best-corrected visual acuity (BCVA) and refraction in patients following vitrectomy for stage 4 retinopathy of prematurity (ROP). Methods We conducted a retrospective review of 42 eyes from 25 patients (35 eyes with stage 4A, 7 eyes with stage 4B) who had successful vitrectomy for stage 4 ROP and were followed for at least 8 years. Postoperative BCVAs and refractive errors between ages 5 and 8 years were compared. Factors related to BCVA at ages 5 and 8, as well as their differences, were analyzed. Results In stage 4A ROP eyes, the mean logMAR BCVA improved significantly from 0.83 (20/135) to 0.63 (20/85) ( p  < 0.001) and a myopic shift of 1 D or more occurred in 21 eyes (61.8%) between ages 5 and 8. In the poor BCVA group at age 5 in the stage 4A eyes, dominant eyes showed a trend of BCVA improvement by ages 5–8 ( p  = 0.06). Multiple regression analysis of the patients with stage 4A ROP showed that phakic and dominant eyes at age 5 were independently associated with better BCVA at ages 5 and 8 ( p  = 0.006 and 0.016 for age 5; p  = 0.009 and 0.002 for age 8). No significant BCVA improvement was noted in stage 4B ROP eyes during the same period. Conclusion This study indicated the possibility of continued visual improvement beyond age 5 in patients who underwent vitrectomy for stage 4A ROP, although a myopic shift occurred concurrently. Key messages What is known Previous studies have reported long-term visual prognosis and refractive errors at specific time points after vitrectomy for ROP in small case series, but there has been limited research on serial changes. What is new This study demonstrates the potential for ongoing visual improvement beyond age 5 and highlights longitudinal myopic changes between ages 5 and 8 in patients who underwent vitrectomy for stage 4A ROP. In patients with poor visual acuity at age 5, being the dominant eye was significantly associated with improved visual acuity by age 8. The findings indicate that postoperative visual acuity in ROP patients gradually improves, even as myopia progresses, underscoring the need for long-term follow-up.

Purpose Extreme lateral interbody fusion provides minimally invasive treatment of spinal deformity, but complications including nerve and psoas muscle injury have been noted. To avoid nerve injury, mini-open anterior retroperitoneal lumbar interbody fusion methods using an approach between the aorta and psoas, such as oblique lumbar interbody fusion (OLIF) have been applied. OLIF with percutaneous pedicle screws without posterior decompression can indirectly decompress the spinal canal in lumbar degenerated spondylolisthesis. In the current study, we examined the radiographic and clinical efficacy of OLIF for lumbar degenerated spondylolisthesis. Methods We assessed 20 patients with lumbar degenerated spondylolisthesis who underwent OLIF and percutaneous pedicle screw fixation without posterior laminectomy. MR and CT images and clinical symptoms were evaluated before and 6 months after surgery. Cross sections of the spinal canal were evaluated with MRI, and disk height, cross-sectional areas of intervertebral foramina, and degree of upper vertebral slip were evaluated with CT. Clinical symptoms including low back pain, leg pain, and lower extremity numbness were evaluated using a visual analog scale and the Oswestry Disability Index before and 6 months after surgery. Results After surgery, significant increases in axial and sagittal spinal canal diameter (12 and 32 %), spinal canal area (19 %), disk height (61 %), and intervertebral foramen areas (21 % on the right side, 39 % on the left), and significant decrease of upper vertebral slip (−9 %) were found ( P  < 0.05). Low back pain, leg pain, and lower extremity numbness were significantly reduced compared with before surgery ( P  < 0.05). Conclusions Significant improvements in disk height and spinal canal area were found after surgery. Bulging of disks was reduced through correction, and stretching the yellow ligament may have decompressed the spinal canal. Lumbar anterolateral fusion without laminectomy may be useful for lumbar spondylolisthesis with back and leg symptoms.

This study evaluated the long-term visual outcomes of patients in whom at least one eye underwent successful lens-sparing vitrectomy (LSV) for stage 4A retinopathy of prematurity (ROP). A retrospective chart review was conducted using the data of 61 eyes of 42 patients with a minimum 4-year follow-up after successful LSV, with or without anti-vascular endothelial growth factor (VEGF) therapy, and whose best-corrected visual acuity (BCVA) was measurable using Landolt rings at the final visit. The mean age at the final follow-up was 10.1 ± 3.3 years. Before LSV, all eyes underwent laser ablation therapy. Twenty eyes (32.8%) with high vascular activity received anti-VEGF therapy before LSV. The mean decimal BCVA at the final follow-up was 0.23 ± 0.26 (range: hand motion to 1.2). Twenty-three eyes (54.1%) had a decimal BCVA of ≥0.4. Among 49 phakic eyes at the final examination, the mean refractive error was −10.1 ± 5.0 D, with 37 eyes (75.5%) having high myopia (>−6.0 D). No significant differences were observed in terms of decimal BCVA and refractive errors between eyes with and without anti-VEGF therapy. Approximately half of the patients had a decimal BCVA of ≥0.4, despite myopic refraction after successful LSV for stage 4A ROP. LSV for stage 4A ROP seemed to be associated with good visual function, despite myopic refraction.

Distal radius fracture, which often occurs in the setting of osteoporosis, can lead to permanent deformity and disability. Great effort has been directed toward developing noninvasive methods for evaluating the distal radius strength, with the goal of assessing fracture risk. The aim of this study was to evaluate distal radius strength using a finite element model and to gauge the accuracy of finite element model measurement using cadaver material. Ten wrists were obtained from cadavers with a mean age of 89.5 years at death. CT images of each wrist in an extended position were obtained. CT-based finite element models were prepared with Mechanical Finder software. Fracture on the models was simulated by applying a mechanical load to the palm in a direction parallel to the forearm axis, after which the fracture load and the site at which the fracture began were identified. For comparison, the wrists were fractured using a universal testing machine and the fracture load and the site of fracture were identified. The fracture load was 970.9N in the finite element model group and 990.0N in the actual measurement group. The site of the initial fracture was extra-articular to the distal radius in both groups. The finite element model was predictive for distal radius fracture when compared to the actual measurement. In this study, a finite element model for evaluation of distal radius strength was validated and can be used to predict fracture risk. We conclude that a finite element model is useful for the evaluation of distal radius strength. Knowing distal radius strength might avoid distal radius fracture because appropriate antiosteoporotic treatment can be initiated.

Variants in the retinitis pigmentosa GTPase regulator (RPGR) gene are a major cause of X-linked inherited retinal disorder (IRD). We herein describe the clinical and genetic features of 14 patients from 13 Japanese families harboring RPGR variants in a nationwide cohort. Comprehensive ophthalmological examinations were performed to classify the patients into one of the phenotype subgroups: retinitis pigmentosa (RP) and cone rod dystrophy (CORD). The mean age of onset/at examination was 13.8/38.1 years (range, 0–50/11–72), respectively. The mean visual acuity in the right/left eye was 0.43/0.43 (range, 0.1–1.7/−0.08–1.52) LogMAR unit. Eight patients had RP, and six had CORD. Whole-exome sequencing with target analyses identified 13 RPGR variants in 730 families with IRD, including 8 novel variants. An association between the phenotype subgroup and the position of variants (cutoff of amino acid 950) was revealed. To conclude, the clinical and genetic spectrum of RPGR-associated retinal disorder was first illustrated in a Japanese population, with a high proportion of novel variants. These results suggest the distinct genetic background of RPGR in the Japanese population, in which the genotype–phenotype association was affirmed. This evidence should be helpful monitoring and counseling patients and in selecting patients for future therapeutic trials.Retinal disorders: Seeing new patternsNew mutations that cause inherited retinal disorders (IRD) such as retinitis pigmentosa have been identified in Japanese patients. IRD, which affect the light-sensing rods and cones of the eye, often appear in childhood, and may cause blindness by middle age. IRD have been traced to mutations of the retinal development gene RPGR, but have mainly been studied in European populations. Go Mawatari and coworkers studied the genetics of IRD in 14 Japanese patients, and searched genetic data collected during the past decade from over 1000 Japanese patients with IRD registered in the Japan Eye Genetics Consortium database. They found eight novel RPGR mutations and noticed that mutations in different parts of the gene cause different types of IRD. These data will help in diagnosis and counselling of patients with these rare eye disorders.

X-linked congenital retinoschisis (XLRS) is an inherited retinal disorder characterized by reduced central vision and schisis of the macula and peripheral retina. XLRS is caused by mutations in the RS1 gene. We have identified 37 different mutations in the RS1 gene, including 12 novel mutations, in 67 Japanese patients from 56 XLRS families. We present clinical features of these patients in relation to the associated mutations.

Purpose To present the clinical findings of patients diagnosed with syphilitic outer retinopathy. Study design A retrospective clinical study. Patients and Methods The study involved four Japanese men whose medical charts were reviewed and analyzed retrospectively. Results All patients declined decimal visual acuity to 0.1, 0.2, 0.4, 0.6, and 0.8. Their fundus appearances were generally normal, except for one patient who displayed faint white dots in the upper macular region. Two patients showed dye leakage from retinal vessels during fluorescein angiography. Optical coherence tomography (OCT) results revealed abnormalities in all patients: three had a disrupted ellipsoid zone (EZ) and hyper-reflective nodules at the retinal pigment epithelium line, while one patient presented with a blurred EZ. The patients had myopia ranging from –4.5 to –7.5 diopters. They were diagnosed with syphilitic outer retinopathy based on the findings from the fundus examination, OCT, and serologic tests and were treated with oral amoxicillin, resulting in improved vision. Conclusions The OCT findings are typical for diagnosing syphilitic outer retinopathy. Myopia was prevalent in the four patients, indicating a need for further research on refractive errors in patients with syphilitic outer retinopathy.

We report two cases of Rubinstein-Taybi syndrome (RTS) with retinal detachment. Case 1 is a nine-year-old girl with RTS. She developed a macula-involving tractional retinal detachment (TRD) in the superior temporal quadrant of her right eye. Lens aspiration, intraocular lens implantation, vitrectomy with membrane peeling, and encircling were performed. However, retinal reattachment was not achieved. Two months after the surgery, neovascular glaucoma (NVG) in the right eye developed and consequently became phthisis bulbi two years after the surgery. At the age of 13 years, she underwent cataract surgery and vitrectomy for mature cataracts and worsening TRD in the left eye. Eleven months after surgery, NVG developed in the left eye, which was refractory to multiple glaucoma surgeries. In addition, the retina was re-detached and could not be reattached due to severe proliferative vitreoretinopathy. Case 2 is a 15-year-old boy with RTS, which was diagnosed immediately after birth. At the age of 10 years, total retinal detachment with a horseshoe tear occurred in the inferior temporal quadrant in the left eye, which underwent lensectomy, vitrectomy, and silicone oil tamponade. To achieve retinal reattachment, three vitrectomies were required. However, secondary angle-closure glaucoma developed one year after the last surgery. The intraocular pressure was poorly controlled even after trabeculotomy and goniosynechialysis, and his vision became no light perception three years postoperatively. Retinal detachment in patients with RTS may be challenging to treat, and multiple surgeries are required. Special caution is exercised regarding postoperative refractory glaucoma.

Purpose To assess the results of perimetry recorded under dark- and light-adapted (DA and LA) conditions in patients with acute zonal occult outer retinopathy (AZOOR) and to compare the results of electroretinography (ERG) and spectral-domain optical coherence tomography (SD-OCT) in two groups of AZOOR patients. Methods Twelve patients with AZOOR were studied. The diagnosis of AZOOR was based on the results of ophthalmoscopy, Goldmann kinetic perimetry, and multifocal ERGs. In addition, DA and LA perimetry, ERG, and SD-OCT were performed. The patients were followed for 1–9 years. Results The patients were classified into two types: type A patients (3) had a scotoma detected by both DA and LA perimetry, normal or equally abnormal cone and rod ERGs, atrophy of the outer nuclear layer (ONL), and disruption of the inner segment/outer segment (IS/OS) junction line in the OCT images. Type B patients (7) had a scotoma that was more prominent in LA than in DA perimetry and a continuous IS/OS junction line in the OCT images. Two patients had characteristics of both type A and type B AZOOR. Conclusions Our findings suggest that eyes with type A AZOOR have focal and severe impairment of both the rods and cones, and eyes with type B AZOOR have focal and specific impairment of the cones.