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Purpose: Inherited retinal dystrophies (IRD) are a heterogeneous group of retinal diseases leading to progressive loss of photoreceptors through apoptosis. Retinitis pigmentosa (RP) is considered the most common form of IRD. Panel-based testing in RP has proven effective in identifying the causative genetic mutations in 70% and 80% of the patients. This is a retrospective, observational, single-center study of 107 RP patients who had undergone next-generation sequencing-based targeted gene panel testing for IRD genes. These patients were inspected for common phenotypic features to arrive at meaningful genotype–phenotype correlation. Methods: Patients underwent complete ophthalmic examination, and blood was collected from the proband for DNA extraction after documenting the pedigree. Targeted Next Generation Sequencing (NGS) was done by panel-based testing for IRD genes followed by co-segregation analysis wherever applicable. Results: Of the 107 patients, 72 patients had pathogenic mutations. The mean age of onset of symptoms was 14 ± 12 years (range: 5–55). Mean (Best Corrected Visual Acuity) BCVA was 6/48 (0.9 logMAR) (range 0.0–3.0). At presentation, over one-third of eyes had BCVA worse than 6/60 (

Background: India carries the largest national burden for rabies globally. Coordinating large-scale canine rabies elimination programs is challenging, particularly in rural areas, where the majority of human rabies deaths occur. This study evaluated the feasibility of combining canine rabies vaccination with pre-existing animal-health interventions or public health programs in a rural area of India. Materials and Methods: Canine rabies vaccination teams collaborated with a bi-annual bovine foot-and-mouth vaccination program coordinated by the Animal Husbandry Department (AH-collaboration) and with a village health program by the Public Health Department (PH-collaboration) in Nilgiris, Tamil Nadu, to vaccinate dogs during the implementation of these government-led health initiatives. Results: A total of 251 dogs were vaccinated over 7 days during the AH-collaboration, and 1083 dogs were vaccinated over 15 days during the PH-collaboration. The AH-collaboration achieved a vaccination coverage of 76% based on same-time sighting survey, and 58% based on post-vaccination survey. The PH-collaboration achieved vaccination coverage of 79% based on the same-time survey and 83% based on the post-vaccination survey. Conclusions: The integration of mass dog vaccination into existing government sector initiatives may facilitate the scaling up of canine rabies vaccination campaigns.

Purpose: Stickler syndrome is associated with the development of rhegmatogenous retinal detachment (RRD), and often presents with ocular, auditory, skeletal, and orofacial abnormalities. Molecular analysis has proven effective in diagnosis, confirmation and classification of the disease. We aimed to describe the utility of next-generation sequencing (NGS) in genetic analysis of four Indian families with suspected Stickler syndrome. Methods: The index cases presented with retinal detachment with family history. Genetic analysis in the index case was performed by next-generation sequencing of inherited retinal degeneration genes, and validated by Sanger sequencing followed by co-segregation analysis in the other family members. Results: Twenty patients were included for the genetic analysis (15 males and 5 females from four families). Clinical details were available for 15 patients (30 eyes). Fourteen eyes (11 patients) developed RRD. In the 16 eyes without RRD, 8 underwent barrage laser to lattice degeneration and 8 were under observation. Disease segregating heterozygous mutations with pathogenic/likely pathogenic effect was identified in COL2A1 (c.4318-1G>A, c.141G>A, c.1221+1G>A for 3 families) and COL11A1 (c.1737+1 G>A for 1 family) gene. In addition to the mutation in the COL2A1 gene, a pathogenic heterozygous variant associated with risk for arrhythmogenic right ventricular cardiomyopathy (ARVC) was identified in one member. Conclusion: NGS testing confirmed the presence of the causative gene for Stickler syndrome in the index case followed by evaluation of family members and confirmation of genetic and ocular findings. We believe that this may be the first such report of families with RRD from India.

Background: Chronic Renal Disease (CRD) complications had a sizeable effect on the patients. This study evaluates illness perception, treatment adherence and clinical outcomes of patients with End-Stage Renal Disease (ESRD) and finds an association with variables. Materials and Methods: A descriptive cross-sectional study was conducted among patients at Sri Ramachandra Institute of Higher Education and Research, Chennai, India during October and November 2017. Data were collected through interviews of each patient separately before hemodialysis. Demographic, clinical variables, identity dimension and control dimension of patients were assessed. Adherence behaviours were measured using ESRD-AQ in four dimensions. Clinical outcome was evaluated based on biochemical parameters. The collected data were analysed by percentage distribution and regression analysis. Results: The study had 120 patients with ESRD with male to female ratio of 2:1 where the majority (35.80%) were in the age group of 51–60. The identity dimension mean (SD) score was 10.80 (1.51). Under the control dimension mean scores were higher in the sub-dimension of emotional representations, consequences and personal control. Among 120 patients, 63 (52.50%) had adherence to dietary restriction. A statistically significant association was observed between timeline with Body Mass Index (BMI) (F3 = 4.81, p = 0.003) and comorbidity (F2 = 2.99, p = 0.022). Conclusions: The higher mean score in the sub-dimensions of emotional representations indicates a higher degree of emotional distress due to low adherence to prescribed medications.