| Presentation preference | Oral presentation |
| Title | NGS in tubercular Serpiginous-like choroiditis (TB-SLC): Possible role of complement gene mutations |
| Accept poster if oral is not possible ? | No |
| Purpose | Tubercular Serpiginous-like choroiditis (TB-SLC) affects retinal pigment epithelium (RPE) and choroid. RPE cells express complement factors CFH, CFB and C2, associated with certain forms of uveitis. We explored the role of complement factors in TB-SLC. |
| Methods | Targeted Next-Generation Sequencing (NGS), using 25 complement genes panel, was done on blood samples of 30 TB-SLC (group A), 30 TB uveitis without SLC (group B), and 53 healthy control cases (group C). |
| Results | In group A, 5 single nucleotide variations (SNVs) (C3, C5, CFH genes), and 11 copy number variations (CNVs) (C2, C3, CFB, CFH, CFHR1 genes) were identified in 13/30 cases (43.3%). In group B, 13 SNVs (CFHR1, CFB, C3, C4B, PIK3R1, THBD, DGKE, C1Q genes) and 5 CNVs (C3, C5, CFH, CFHR1, CFHR3, DGKE genes) were observed in 13/30 cases (43.3%). In group C, only 5 SNVs (C1S, C1R, C5, PIK3R1, CFB genes) were found in 4/53 cases (7.5%). Group A variations were more in complement pathway proteins (12), than complement pathway regulators (6). Group B variations involved complement pathway proteins (7), complement pathway regulators (7), and complement signaling proteins (4). In contrast, Group C exhibited only few variations in classical (2) and alternate (1) pathways. |
| Conclusion | Higher CNVs in group A compared to a higher SNVs in group B may partially explain their phenotypic differences. This pilot study provides the first preliminary data suggesting a possible role of complement gene variants in development of TB-SLC phenotype. This opens future directions for prospective validation, and in vitro animal or cell line functional studies before exploring anti-complement therapy for TB-SLC. |
| Conflict of interest | No |
| Last name | BANSAL |
| Initials of first name(s) | R |
| Department | Advanced Eye Centre |
| City | Chandigarh |
| Country | India |
| Last name | Bajaj |
| Initials of first name(s) | P |
| Department | Advanced Eye Centre |
| City | Chandigarh |
| Country | India |
| Last name | Tigari |
| Initials of first name(s) | B |
| Department | Advanced Eye Centre |
| City | Chandigarh |
| Country | India |
| Last name | Gupta |
| Initials of first name(s) | V |
| Department | Advanced Eye Centre |
| City | Chandigarh |
| Country | India |
| Last name | Bhatia |
| Initials of first name(s) | P |
| Department | Advanced Pediatric Centre |
| City | Chandigarh |
| Country | India |