Executive Summary : | The study aims to investigate the possible association of complement system gene variations with tubercular Serpiginous-like Choroiditis (SLC), a manifestation of ocular tuberculosis (TB), which causes sight-threatening uveitis. SLC shares clinical and pathophysiologic features with AMD, MFC, and ocular sarcoidosis, suggesting a common genetic basis for these diseases. Clinical heterogeneity, racial/geographic variations, and varying treatment outcomes in SLC also suggest an unidentified genetic susceptibility in the hosts. SLC affects the retinal pigment epithelium (RPE) and choroid, and RPE cells synthesize and express CFH, complement factor B (CFB), and C2. The study hypothesizes that CFH, CFB, and C2 may contribute to the pathogenesis of SLC. The research will involve enrolment of 30 SLC cases, 30 TB uveitis cases without SLC, and 90 healthy controls. The work flow will include blood sample collection, DNA isolation and storage, NGS run, and bioinformatics analysis. The findings will help in counseling patients with widespread retinal/choroidal damage and reveal the genetic basis of SLC. Elucidation of the complement playing a role in SLC could make it a potential therapeutic target. Depending on the pathways involved, selective components of the complement cascade (initiators, regulators, or effectors) can be targeted to develop complement-targeted drugs to minimize or eliminate the severe visual loss accompanying SLC. |
Co-PI: | Dr. Prateek Bhatia, Post Graduate Institute Of Medical Education And Research (PGIMER), Chandigarh-160012, Prof. Vishali Gupta, Post Graduate Institute Of Medical Education And Research (PGIMER), Chandigarh-160012, Dr. Basavaraj Tigari, Post Graduate Institute Of Medical Education And Research (PGIMER), Chandigarh-160012 |