Highly efficient capture approach for the identification of diverse inherited retinal disorders.

Our study presents a 319-gene panel targeting inherited retinal dystrophy (IRD) genes. Through a multi-center retrospective cohort study, we validated the assay's effectiveness and clinical utility and characterized the mutation spectrum of Taiwanese IRD patients. Between January 2018 and May 2022, 493 patients in 425 unrelated families, all initially suspected of having IRD without prior genetic diagnoses, underwent detailed ophthalmic and physical examinations (with extra-ocular features recorded) and genetic testing with our customized panel. Disease-causing variants were identified by segregation analysis and clinical interpretation, with validation via Sanger sequencing. We achieved a read depth of >200× for 94.2% of the targeted 1.2 Mb region. 68.5% (291/425) of the probands received molecular diagnoses, with 53.9% (229/425) resolved cases. Retinitis pigmentosa (RP) is the most prevalent initial clinical impression (64.2%), and 90.8% of the cohort have the five most prevalent phenotypes (RP, cone-rod syndrome, Usher's syndrome, Leber's congenital amaurosis, Bietti crystalline dystrophy). The most commonly mutated genes of probands that received molecular diagnosis are USH2A (13.7% of the cohort), EYS (11.3%), CYP4V2 (4.8%), ABCA4 (4.5%), RPGR (3.4%), and RP1 (3.1%), collectively accounted for 40.8% of diagnoses. We identify 87 unique unreported variants previously not associated with IRD and refine clinical diagnoses for 21 patients (7.22% of positive cases). We developed a customized gene panel and tested it on the largest Taiwanese cohort, showing that it provides excellent coverage for diverse IRD phenotypes.

The association of dry eye syndrome and psychiatric disorders: a nationwide population-based cohort study.

BACKGROUND: Several previous studies reported a greater prevalence of dry eye syndrome (DES) among patients with psychiatric diseases. The aim of this study is to investigate the prevalence and risk factors of DES in patients with psychiatric disorders (PD) using nationwide population-based data in Taiwan. METHODS: This population-based cohort study retrospectively identified patients with PD from 1997 to 2011. Patients with both PD and DES served as the DES cohort, and PD patients without DES comprised the non-DES cohort. PD was defined as a diagnosis of PD (ICD-9-CM 290-319) made by psychiatrists only, with at least three consecutive outpatient visits or at least one inpatient visit. DES was defined as a diagnosis of DES (ICD-9-CM 375.15) and a prescription for an eye lubricant (anatomical therapeutic chemical code, ATC code: S01XA). The main outcome measures were the prevalence of DES in these patients and associated risk factors. RESULTS: A total of 75,650 patients with PD (3665 in the DES cohort and 71,985 in the non-DES cohort) were included in the final analysis. The majority of patients in the DES group were women (72.6%), compared the non-DES group (57.8%). The mean age of patients in the DES cohort was 62.2 ± 14.9, which was significantly older than those in the non-DES group (50.9 ± 17.5). The patients with DES had a significantly greater likelihood of having dementia, bipolar disorder, depression, and neurotic disorders. Conditional regression analyses revealed that patients with dry eye disease were more likely to have schizophrenia (OR = 1.34), bipolar disorder (OR = 1.9), depression (OR = 1.54), and neurotic disorders (OR = 1.62). In addition, patients with DES were more likely to use 1st generation anti-psychotics (OR = 1.28) and had a lower risk of using 2nd generation anti-psychotics (OR = 0.64). CONCLUSION: The study demonstrated that among PD patients, DES is highly prevalence in certain subtypes of PD, such as depression, bipolar disorder, and neurotic disorders, after adjusting for the comorbidities.

Vitreous haemorrhage: a population-based study of the incidence and risk factors in Taiwan.

AIM: To report the epidemiology and incidence of vitreous hemorrhage and to evaluate risk factors for patients with vitreous hemorrhage (VH) in Taiwan. METHODS: A retrospective population-based study. Analyzing a sample of one million subjects from all enrollees of the Taiwan Health Insurance programme. All data were obtained from the Taiwan Health Insurance Research Database, which contained patient sex, date of birth, all records of clinical visits and hospitalizations, and diagnosis codes as included in the International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM). The main outcome measures were the incidence and risk factors of VH. RESULT: From 2001 to 2010, the database claim 4379 newly diagnosed cases were identified with VH. The average incidence of VH in Taiwan was 4.8 cases per ten-thousand person-years generally and increased with time especially in subjects who aged between 40 and 59y and when the VH was associated with proliferative diabetic retinopathies or retinal vein occlusions. A definitely upward trends in the incidence of VH from 2001 to 2010 were noted (P-value for increasing trend <0.001). Univariate Cox's regression analysis pointed out that older age (for 40-59, P<0.001, HR=9.39; for ≥60, P<0.001, HR=11.39), male gender (P=0.03, HR=1.07) and subjects who had been prescribed anti-coagulation drug included aspirin, warfarin and clopidogrel (P<0.001, HR=2.20) were significant risk factors for suffering from VH. CONCLUSION: The incidence of VH is estimated being 4.8 cases per 10 000 person-years in Taiwan. Age, male gender and having been prescribed anti-coagulation drugs are associated with the incidence of VH.