Shinji Ueno’s research while affiliated with Hirosaki University and other places

To determine whether convolutional neural networks (CNN) can classify the severity of central vision loss using fundus autofluorescence (FAF) images and color fundus images of retinitis pigmentosa (RP), and to evaluate the utility of those images for severity classification. Retrospective observational study. Medical charts of patients with RP who visited Nagoya University Hospital were reviewed. Eyes with atypical RP or previous surgery were excluded. The mild group was comprised of patients with a mean deviation value of > − 10 decibels, and the severe group of < − 20 decibels, in the Humphrey field analyzer 10-2 program. CNN models were created by transfer learning of VGG16 pretrained with ImageNet to classify patients as either mild or severe, using FAF images or color fundus images. Overall, 165 patients were included in this study; 80 patients were classified into the severe and 85 into the mild group. The test data comprised 40 patients in each group, and the images of the remaining patients were used as training data, with data augmentation by rotation and flipping. The highest accuracies of the CNN models when using color fundus and FAF images were 63.75% and 87.50%, respectively. Using FAF images may enable the accurate assessment of central vision function in RP. FAF images may include more parameters than color fundus images that can evaluate central visual function.

Measurement of anterior chamber depth (ACD), an important marker for the screening of primary angle-closure glaucoma, requires biometry, which is not readily used. This study assessed the relationship between ACD and health check-up data findings from participants with good corrected visual acuity in Japan. Participants underwent ophthalmic, anthropometric, and hematological assessments. The mean ACD of all 3060 participants was 3.33 ± 0.34 mm [2.22–4.72 mm]. Multivariable linear regression analysis was performed to determine factors that were significantly correlated with ACD, and logistic regression analysis was performed to predict ACD < 2.70 mm. Multivariable linear regression analysis showed that age, sex, intraocular pressure, spherical equivalent refractive error (SER), height, and fasting blood sugar levels significantly correlated with ACD (P < 0.05). Logistic regression analysis showed that age, sex, and SER were the best predictors of ACD < 2.70 mm. The area under receiving operator characteristic curves of ‘age and SER’ and ‘age, SER, and sex’ were 0.821 and 0.835, respectively, with no significant difference (P = 0.122). In conclusion, ACD correlates with several parameters, and age and SER may be particularly important for predicting ACD in participants undergoing health checkups. Supplementary Information The online version contains supplementary material available at 10.1038/s41598-024-82096-1.

Purpose Retinal arterioles are attenuated in eyes with retinitis pigmentosa (RP), but dimensions such as lumen diameter (LD) and wall thickness (WT) have not been thoroughly investigated. This study aimed to determine the dimensions of reduced retinal arterioles in eyes with RP. Methods The study included 66 patients with RP (66 eyes) and 36 control participants (36 eyes) for whom adaptive optics (AO) recordings of the retinal arteries were available. LD and WT were measured on the AO images. The correlations between arteriole dimensions and clinical parameters were determined. Results The mean LD was significantly smaller in patients with RP than in controls, while the mean WT did not differ significantly. LD was significantly and positively correlated with the mean deviation (MD) of the Humphrey 10-2 field analyzer and ellipsoid zone (EZ) width. The WT and wall-to-lumen ratio were significantly and positively correlated with age and systolic blood pressure but not with MD and EZ width. Conclusion Retinal arteriole dimensions were significantly correlated with retinal degeneration and systemic factors.

Purpose To ascertain the characteristics of achromatopsia (ACHM) in Japan by analyzing the genetic and phenotypic features of patients with ACHM. Methods The medical records of 52 patients from 47 Japanese families who were clinically diagnosed with ACHM were reviewed in this retrospective observational study. Results Thirty-six causative variants of ACHM were identified in 26 families via whole-exome sequencing (WES): PDE6C (12 families), CNGA3 (10 families), CNGB3 (two families), and GNAT2 (two families). However, none of the six causative variants that are known to cause ACHM, or the 281 other genes listed in RetNet, were observed in 19 families. A significant trend toward older age and worsening of ellipsoid zone disruption on optical coherence tomography images was observed ( P < 0.01). Progressive ellipsoid zone disruptions were observed in 13 eyes of seven patients during the follow-up visits. These patients harbored one or more variants in PDE6C . Conclusions The ACHM phenotype observed in this study was similar to those observed in previous reports; however, the causative gene variants differed from those in Europe. The low identification ratio of causative genes in WES suggests the presence of unique hot spots in Japanese patients with ACHM that were not detectable via ordinal WES.

The aim of this study was to estimate the number of patients in Japan who had visited an ophthalmologist for macular dystrophy of various types, including Best vitelliform macular dystrophy (BVMD), Stargardt disease, occult macular dystrophy (OMD), cone (-rod) dystrophy, X-linked retinoschisis (XLRS), and central areolar choroid dystrophy (CACD). Nationwide epidemiologic survey Questionnaires were distributed to 965 major facilities, including all the university hospitals in Japan. The aim of the questionnaire was to determine the number of patients with each type of macular dystrophy who had visited an outpatient clinic during the past 5 years (January 2015 to December 2019). Over 70% of the patients were diagnosed and followed up at university hospitals. The estimated annual number of newly diagnosed cases was as follows: 55.3 for BVMD, 36.7 for Stargardt disease, 35.8 for OMD, 160.6 for cone (-rod) dystrophy, 31.0 for XLRS, 29.8 for CACD, and 174.1 for other types of macular dystrophy. The total number of patients with macular dystrophy diagnosed and followed at major institutions was estimated to be 6651. This was the first nationwide survey of macular dystrophy in Japan and provided an approximate number of affected patients. The diagnosis of macular dystrophy is primarily carried out at facilities with affiliated specialists, such as university hospitals. By examining the incidence of multiple diseases simultaneously, we were able to compare the incidence of each type of macular dystrophy.

We investigated the impact of drainage retinotomy on the outcome of pars plana vitrectomy for repair of rhegmatogenous retinal detachment (RRD). This study was a retrospective observational multicenter study. All patients were registered with the Japan-Retinal Detachment Registry. We analyzed 1887 eyes with RRD that had undergone vitrectomy and were observed for 6 months between February 2016 and March 2017. We compared the baseline characteristics and postoperative outcomes between eyes with and without drainage retinectomy. We then performed propensity score matching using preoperative findings as covariates to adjust for relevant confounders. Of 3446 eyes, 1887 met the inclusion criteria. Among them, 559 eyes underwent vitrectomy with drainage retinotomy, and 1328 eyes underwent vitrectomy without drainage retinotomy. After propensity score matching, each group comprised 544 eyes. There was no significant difference between the two groups in BCVA at 6 months after vitrectomy (0.181 vs. 0.166, P = 0.23), the primary anatomical success rate (6.3% vs. 4.4%, P = 0.22), or the rate of secondary surgery for ERM within 6 months (1.5% vs. 1.3%, P = 1.0). Drainage retinectomy does not increase the risk of decreased postoperative BCVA, surgical failure, or secondary surgery for ERM within six months outcomes.

Background: As gene-specific therapy for inherited retinal dystrophy (IRD) advances, unified variant interpretation across institutes is becoming increasingly important. This study aims to update the genetic findings of 86 retinitis pigmentosa (RP)-related genes in a large number of Japanese patients with RP by applying the standardised variant interpretation guidelines for Japanese patients with IRD (J-IRD-VI guidelines) built upon the American College of Medical Genetics and Genomics and the Association for Molecular Pathology rules, and assess the contribution of these genes in RP-allied diseases. Methods: We assessed 2325 probands with RP (n=2155, including n=1204 sequenced previously with the same sequencing panel) and allied diseases (n=170, newly analysed), including Usher syndrome, Leber congenital amaurosis and cone-rod dystrophy (CRD). Target sequencing using a panel of 86 genes was performed. The variants were interpreted according to the J-IRD-VI guidelines. Results: A total of 3564 variants were detected, of which 524 variants were interpreted as pathogenic or likely pathogenic. Among these 524 variants, 280 (53.4%) had been either undetected or interpreted as variants of unknown significance or benign variants in our earlier study of 1204 patients with RP. This led to a genetic diagnostic rate in 38.6% of patients with RP, with EYS accounting for 46.7% of the genetically solved patients, showing a 9% increase in diagnostic rate from our earlier study. The genetic diagnostic rate for patients with CRD was 28.2%, with RP-related genes significantly contributing over other allied diseases. Conclusion: A large-scale genetic analysis using the J-IRD-VI guidelines highlighted the population-specific genetic findings for Japanese patients with IRD; these findings serve as a foundation for the clinical application of gene-specific therapies.

Purpose Achromatopsia (ACHM) is an early-onset cone dysfunction caused by 5 genes with cone-specific functions (CNGA3, CNGB3, GNAT2, PDE6C, and PDE6H) and by ATF6, a transcription factor with ubiquitous expression. To improve the relatively low variant detection ratio in these genes in a cohort of exome-sequenced Japanese patients with inherited retinal diseases (IRD), we performed genome sequencing to detect structural variants and intronic variants in patients with ACHM. Methods Genome sequencing of 10 ACHM pedigrees was performed after exome sequencing. Structural, non-coding, and coding variants were filtered based on segregation between the affected and unaffected in each pedigree. Variant frequency and predicted damage scores were considered in identifying pathogenic variants. Results A homozygous deletion involving exon 18 of RPGRIP1 was detected in 5 of 10 ACHM probands, and variant inheritance from each parent was confirmed. This deletion was relatively frequent (minor allele frequency = 0.0023) in the Japanese population but was only homozygous in patients with ACHM among the 199 Japanese IRD probands analyzed by the same genome sequencing pipeline. Conclusion The deletion involving exon 18 of RPGRIP1 is a prevalent cause of ACHM in Japanese patients and contributes to the wide spectrum of RPGRIP1-associated IRD phenotypes, from Leber congenital amaurosis to ACHM.

Purpose The aim of this study was to present a case of severe visual loss due to retinal arteriovenous occlusion and papillitis in one eye following vaccination against coronavirus disease (COVID-19). Methods A 45-year-old man undergoing treatment for hypertension had severely reduced visual acuity in the right eye 1 day after receiving a third dose of a COVID-19 vaccine manufactured by Moderna. Clinical examination showed that the best-corrected visual acuity in the right eye was counting fingers. Other findings included circumferential retinal hemorrhage, perimacular ischemic color, severe macular edema, and severe optic disc swelling, indicating the presence of central retinal vein occlusion, incomplete central retinal artery occlusion, and papillitis. Based on the possibility of post-vaccination inflammation and/or abnormal immune response, three courses of steroid pulse therapy were administered, and the visual acuity slightly improved to 20/1,000. Results Three months after the onset of symptoms, macular edema disappeared; conversely, retinal thinning of the macula and extensive non-perfusion areas mainly on the nasal side were noted. Conclusion The findings in this case suggest that inflammation and abnormal immune response after receiving a COVID-19 vaccination may lead to combined retinal arteriovenous occlusion and papillitis.