担当区分：筆頭著者   記述言語：英語   出版者・発行元：Scientific Reports  

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.

DOI： 10.1038/s41598-024-82096-1

Open Access

Web of Science

Scopus

PubMed

researchmap

記述言語：英語   出版者・発行元：Scientific Reports  

The phenotypes of RP1-related inherited retinal dystrophies (RP1-IRD), causing autosomal dominant (AD) and autosomal recessive (AR) diseases, vary depending on specific RP1 variants. A common nonsense mutation near the C-terminus, c.5797 C > T (p.Arg1933*), is associated with RP1-IRD, but the exact role of this mutation in genotype-phenotype correlation remains unclear. In this study, we retrospectively analyzed patients with RP1-IRD (N = 42) from a single center in Japan. AR RP1-IRD patients with the c.5797 C > T mutation (N = 14) mostly displayed macular dystrophy but rarely retinitis pigmentosa or cone-rod dystrophy. Conversely, AR RP1-IRD patients without the c.5797 C > T mutation, including those with other pathogenic RP1 variants, were mostly diagnosed with severe retinitis pigmentosa. Full-field electroretinograms were significantly better in patients homozygous or compound heterozygous for the c.5797 C > T mutation than in those without this mutation, corresponding to their milder phenotypes. Clinical tests also revealed a slower onset of age and a better mean deviation value with the static visual field in AR RP1-IRD patients with the c.5797 C > T mutation compared to those without. Therefore, the presence of c.5797 C > T may partly account for the phenotypic variety of RP1-IRD and may yield milder phenotypes. These findings may be useful for predicting the prognosis of RP1-IRD patients.

DOI： 10.1038/s41598-024-77441-3

Open Access

Web of Science

Scopus

PubMed

researchmap

担当区分：筆頭著者   記述言語：英語   出版者・発行元：Retina  

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: PDE6C (12 families), CNGA3 (10 families), CNGB3 (two families), and GNAT2 (two families). However, none of the 6 causative variants that are known to cause ACHM, or the 275 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.Conclusion: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 whole-exome sequencing suggests the presence of unique hotspots in Japanese patients with ACHM that were not detectable via ordinal whole-exome sequencing.

DOI： 10.1097/IAE.0000000000004170

Web of Science

Scopus

PubMed

researchmap

出版者・発行元：金原出版  

DOI： 10.18888/ga.0000003731

CiNii Research

researchmap

出版者・発行元：株式会社医学書院  

DOI： 10.11477/mf.1410215196

CiNii Research

researchmap

出版者・発行元：株式会社医学書院  

DOI： 10.11477/mf.1410215179

CiNii Research

researchmap

記述言語：英語   出版者・発行元：Genetics in Medicine Open  

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.

DOI： 10.1016/j.gimo.2024.101843

Scopus

PubMed