No abstract

Background: Inherited retinal dystrophy (IRD) is a group of irreversible retinal degenerative disorders with significant genotypic and phenotypic heterogeneity, which cause difficulty in making a precise clinical diagnosis.Furthermore, the mutation spectrum of IRD in Taiwan remains unknown. Therefore, our study focused on investigating the spectrum of mutations among Taiwanese families with IRD using targeted exome sequencing (TES) technology. Methods: We recruited a total of 60 unrelated Taiwanese families with IRD; most of them were retinitis pigmentosa. We employed TES to investigate 284 candidate genes. Bioinformatics analysis, Sanger sequencing-based cosegregation testing, and computational assessment were performed to validate each mutation and its pathogenicity. The genotype-phenotype correlation was analysed in all patients with mutations defined in the guidelines provided by the American College of Medical Genetics. Results: We successfully identified genetic causes in 32 families (detection rate of 53.3%). Among them, 16 had a sporadic inheritance (16/36, 44.4%); eight had an autosomal recessive inheritance (8/14, 57.1%); four had an autosomal dominant inheritance (4/5, 80%); four had an X-linked inheritance (4/5, 80%). Among 38 pathological mutations in 19 known genes, 20 mutations are reported here for the first time. Novel mutation spectrum and genotypephenotype correlations were revealed as well. Conclusion: Here we achieved a detection rate of 53.3% and elucidated the mutation spectrum in Taiwanese families with IRD for the first time. The results indicated that CYP4V2 and USH2A might be the most common pathogenic genes in IRD patients in Taiwan. K E Y W O R D Sinherited retinal dystrophy, mutations spectrum, Taiwanese population, targeted exome sequencing

This study has revealed a significant genetic role for CFI-rs13104777 in AAU. This influence may be dependent on human leukocyte antigen (HLA)-B27 and disease laterality. Overall, the results provide evidence for a pathogenic role for CFI in AAU and expand our knowledge on the genetic basis of AAU.

Abstract. Although many studies have discussed visual acuity (VA), the childhood myopia epidemic has not been alleviated and requires further investigation. This study, therefore, investigates the differences in children's VA among various family structures and the effects of visual health attitudes (VHA) and visual health behaviors (VHB) on VA. The children in low socioeconomic status (SES) families in Changhua County, Taiwan are the main research subjects. Using purposive sampling, the study conducts a questionnaire survey and a VA examination on low SES children, undergoing counseling at two social welfare organizations in Taiwan. The VA examination was conducted at the two social welfare organizations by an ophthalmologist from Tzu Chi Hospital, Taichung, between October 2016 and December 2016. 265 questionnaires were returned. Significantly, over 60% of the samples of low SES children were not living with their parents. Of these children, the highest proportion (35.8%) lived with their mothers; the second-highest (31.3%), lived with their grandparents; and the third highest (29.4%), lived with their fathers. 86.4% of the low SES children had poor (below 1.0) VA. The study, therefore, concludes that schools should focus on low SES students, and should focus on improving the VHA of the youngest students.