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Objectives: This study aimed to identify patients with high-probability of ocular involvement of Behçet's disease (BD). Methods: The Japanese Ministry of Health, Labour and Welfare provided dataset of ongoing nationwide BD registration project. A patient who had confirmed BD and who was suspected to have BD was registered. We mainly analyzed newly registered patients who had the data for all demographic and diagnostic parameters regardless of fulfilment of any diagnostic criteria. Results: Among 3213 patients with confirmed or possible BD, 1382 (43.0%) were men and 1831 (57.0%) were women with a median age of 38 years (interquartile range (IQR) 30-49 years). The median duration between onset and registration was 0 year (IQR 0-3). A binomial multivariable logistic regression analysis revealed that being female (odds ratio (OR) 0.63, 95% confidence interval (CI) 0.53-0.75, p<.001), duration since onset (OR 1.33 per 10 years, 95% CI 1.18-1.51, p<.001), genital ulceration (OR 0.28, 95% CI 0.23-0.34, p<.001), and gastrointestinal symptoms (OR 0.36, 95% CI 0.30-0.44, p<.001) were related to the ocular lesion. Analyses based on data of 2800 patients who satisfied International criteria of BD, age-, sex-, duration-based subgroup analyses, analyses targeting iridocyclitis and retino-uveitis, and analysis including patients with missing data confirmed that the four factors were associated with the probability of eye involvement. Conclusion: The ocular involvement did not accompany with genital ulcer or gastrointestinal symptoms at the early stage of BD. [ABSTRACT FROM AUTHOR]

Purpose: The crystallin beta A4 (CRYBA4) gene variant, rs2009066, was previously reported to be associated with high myopia in a southern Chinese population. In the present study, we investigated whether CRYBA4 variants were associated with high myopia in a Japanese population. Methods: We recruited 1,063 Japanese patients with high myopia (spherical equivalent [SE] #-9.00 D in both eyes) and 1,009 healthy Japanese subjects (SE .-1.00 D). We genotyped rs2009066 and three tagging single-nucleotide polymorphisms (SNPs), rs16982456, rs2071861, and rs4276, in the CRYBA4 region. Results: We did not find any significant association between these four SNPs and high myopia in an allele analysis. However, rs2009066 and rs2071861, which were in strong linkage disequilibrium (LD; r2=0.86), showed a marginal association with high myopia in the recessive genotype model of risk alleles (rs2009066 G allele: P=0.032, odds ratio [OR] =1.31; rs2071861 A allele: P=0.037, OR =1.31). Nevertheless, this association became insignificant after correcting for multiple testing (Pc .0.05). Conclusion: This study showed no significant association between CRYBA4 variants and high myopia in a Japanese population. Our findings did not correspond with a previous study. Further genetic studies with other populations are needed to elucidate a potential contribution of the CRYBA4 region in the development of high myopia. [ABSTRACT FROM AUTHOR]

Objective. This report aimed to scrutinize the prevalence of Behc¸ et's disease (BD)-related clinical manifestations based on age- and sex-specific subgroups using a Japanese nationwide registration database. Methods. The database of newly registered BD was obtained from the Japanese Ministry of Health, Labour and Welfare. Patients who met the International Criteria for Behc¸ et's Disease were selected and analysed. Results. Among 6627 International Criteria for Behc¸ et's Disease cases, 2651 (40.0%) were men and 3976 (60.0%) were women with a median age of 39 years (interquartile range: 31-50 years). Ocular lesion was more common in male [odds ratio (male: female) 2.64 (95% CI: 2.35, 2.95, P<0.001)] and genital ulceration was more common in female (odds ratio = 0.29, 95% CI: 0.25, 0.32, P<0.001). Ocular lesion (P<0.001), arthritis (P<0.001) and vascular lesions (P<0.001) were more frequently observed in elderly registered patients. Contrarily, genital ulceration (P<0.001), epididymitis of males (P = 0.023) and oral ulceration (P = 0.003) were more common in younger patients. Simultaneous assessment of sex and age revealed that male predominance of ocular involvement was found in the young adult generation, but not in patients over 70 year of age. A female predominance of genital ulcer was prominently observed in patients 20-59 year of age; however, the sex difference was not found in patients over 60 years of age. Sensitivity analysis using International Study Group criteria replicated the results. Conclusion. We showed that clinical phenotype in early phase of BD was different depending on onset age and sex. [ABSTRACT FROM AUTHOR]

Purpose: Many studies have investigated the relationship of paired box 6 (PAX6) gene polymorphisms with the risk of high myopia, but the results across studies remain inconsistent and ambiguous. In the present work, we investigated whether PAX6 polymorphisms are associated with high myopia in a Japanese population. Methods: A total of 1,585 Japanese patients with high myopia (spherical equivalent [SE] <-9.00 diopters [D]) and 1,011 Japanese healthy controls (SE≥-1.00 D) were recruited. To compare genotype frequencies between cases and controls, we genotyped five single nucleotide polymorphisms in the PAX6 gene that are reportedly associated with high/extreme myopia: rs662702, rs3026393, rs644242, rs3026390, and rs667773. Results: For rs662702, rs644242, and rs667773, odds ratios (ORs) for their risk alleles tended to increase with the progression of SE and axial length in the additive and recessive models. Of these, rs644242 had the highest OR (2.56) in patients with SE<-15 D in both eyes in the recessive model. On the other hand, for rs3026393 and rs3026390, the ORs for their risk alleles tended to increase according to the progression of SE and axial length in the dominant model. Of the two, rs3026393 had the highest OR (2.32) in patients with SE<-15 D in both eyes in the dominant model. However, no significant associations were identified in this study. Conclusion: We found that these PAX6 single nucleotide polymorphisms were associated with an increased risk of extreme myopia. Although the results, which are in agreement with some previous studies, did not reach statistical significance, PAX6 single nucleotide polymorphisms may be important risk factors for the development of extreme myopia. Further genetic studies with larger sample sizes and taking into account the degree of myopia are needed to clarify the contribution of PAX6 variants in myopia development. [ABSTRACT FROM AUTHOR]

PURPOSE: To evaluate various surgeries for treating retinal detachment (RD) associated with familial exudative vitreoretinopathy (FEVR). DESIGN: Retrospective, interventional case series. METHODS: The charts of 22 patients who underwent surgery were reviewed. A complete ophthalmic examination was performed including wide-field fundus images with fluorescein angiography. The primary and secondary outcomes were fundus features (vascular activity of the fibrovascular proliferation and extent of tractional RD) and visual acuity (VA), respectively. RESULTS: Thirty-one eyes were included (12 eyes underwent scleral buckling, 1 scleral buckling and vitrectomy, 7 vitrectomy alone, and 11 lensectomy and vitrectomy). Twenty-six eyes were reattached during 1 surgery. Scleral buckling resulted in cessation of fibrovascular proliferation and retinal reattachment; only 1 of these eyes required vitrectomy. Lens-sparing vitrectomy resulted in stabilized fibrovascular proliferation and retinal reattachment. Vitrectomy with lensectomy did not achieve retinal reattachment in 4 eyes. Fibrovascular proliferation has a rich vascular component in patients younger than 3 years, and collagen fibers were present mainly with more advanced age. The postoperative VA improved in 5 of 8 eyes examined, was unchanged in 1 eye, and decreased in 2 eyes with macular involvement. CONCLUSIONS: FEVR-induced RDs are highly variable and require careful preoperative evaluation to determine the best surgical procedure. Vitrectomy with release of posterior traction is essential in younger patients with vascularly active fibrovascular proliferation, whereas scleral buckling may be important for cases with peripheral traction anterior to the equator. In all cases, peripheral thermal treatment applied to all ischemic areas contributed to reduced peripheral neovascularization. [ABSTRACT FROM AUTHOR]

The present study examined how the mother of a high-functioning developmental disorder (HFPDD) child makes sense of her child care and the child's disability in her life. It also looked at the relationship between the mother's meaning of child care and the child's disability, and her recognition of the child's disability, from the perspective of new theories of grief. Narratives about the meaning of the experience of having child with HFPDD and the recognition of the disability were obtained through semi-structured interviews with 19 mothers of HFPDD children. The main findings were as follows. First, mothers were categorized into six types according to the meanings of child care and the child's disability: "growth-positivity," "ambivalence," "inactivity," "identity," "resignation," and "insensitivity." In addition, giving positive meaning to child care and the child's disability in the mother's life was related to finding significance and social value in her child and the child's disability, and to less difficulty and conflict in her conception of the child's disability. [ABSTRACT FROM AUTHOR]