A5090802971- Retinal Development and Disorders
- Mitochondrial Function and Pathology
- Retinal Diseases and Treatments
- Photoreceptor and optogenetics research
- melanin and skin pigmentation
- Drug-Induced Ocular Toxicity
- Ophthalmology and Visual Impairment Studies
- Cytomegalovirus and herpesvirus research
- Ocular Disorders and Treatments
- Agriculture, Soil, Plant Science
- Fish biology, ecology, and behavior
- Glaucoma and retinal disorders
- RNA regulation and disease
- CRISPR and Genetic Engineering
- Advanced biosensing and bioanalysis techniques
Oil and Natural Gas Corporation (India)
2015-2024
Sankara Nethralaya
2008-2023
Creative Commons
2023
Birla Institute of Technology and Science - Hyderabad Campus
2015
Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP) are retinal degenerative diseases which cause severe dystrophy affecting the photoreceptors. LCA is predominantly inherited as an autosomal recessive trait contributes to 5% of all dystrophies; whereas RP by Mendelian pattern inheritance both leading causes visual impairment in children young adults. Homozygosity mapping efficient strategy for known novel disease loci conditions, especially a consanguineous mating, exploiting...
Congenital stationary night blindness (CSNB) is an inherited retinal disease that often associated with high myopia and can be caused by pathological variants in multiple genes, most commonly
Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous retinal disorder which represents rod photoreceptor dysfunction or signal transmission defect from photoreceptors to adjacent bipolar cells. Patients displaying show Riggs-electroretinogram (ERG) while patients with Schubert-Bornschein ERG. The latter group subdivided into complete incomplete (ic) CSNB. Only few CSNB cases Riggs-ERG only one family disease-causing variant in SLC24A1 have been reported....
To provide a comprehensive data on the prevalence of mutations in Leber congenital amaurosis (LCA) candidate genes from larger Indian cohort. Ninety‐two unrelated subjects were recruited after complete ophthalmic examination and informed consent. Targeted re‐sequencing 20 was performed using Agilent HaloPlex target enrichment assay sequenced Illumina MiSeq platform. The analyzed standard bioinformatics pipeline, variants annotated, validated segregated. Genotype‐phenotype correlation for...
Purpose: To determine the frequency of pathogenic mutations in gene encoding RPE65 patients from India with Leber congenital amaurosis (LCA). Methods: The coding sequence all 14 exons and adjacent flanking intron sequences were directly sequenced 60 unrelated Indian LCA patients. Bioinformatics tool was used to study structural changes mutant protein. Results: Three variants found; two missense one isocoding change. Of changes, a putative polymorphism (N321K) other novel missense, disease...
Purpose: Inherited retinal dystrophies (IRD) are a heterogeneous group of diseases leading to progressive loss photoreceptors through apoptosis. Retinitis pigmentosa (RP) is considered the most common form IRD. Panel-based testing in RP has proven effective identifying causative genetic mutations 70% and 80% patients. This retrospective, observational, single-center study 107 patients who had undergone next-generation sequencing-based targeted gene panel for IRD genes. These were inspected...