Publications by authors named "P Porkodi"
Purpose: Environmental and genetic factors are associated with development of Pseudoexfoliation syndrome (XFS). Here we intended to elucidate the association of candidate genes in relevance to UV exposure in these patients.
Methods: This is a case-control study of 309 subjects ( = 219 controls and 90 XFS cases) from India.
Article Synopsis
- Inherited retinal dystrophies (IRD), particularly retinitis pigmentosa (RP), lead to progressive loss of vision, affecting photoreceptors, with genetic testing identifying causative mutations in 70-80% of RP cases.
- This study analyzed 107 RP patients using next-generation sequencing to correlate genetic mutations with specific retinal features, finding 72 patients with pathogenic mutations and documenting symptom onset around age 14.
- Results revealed distinct phenotype characteristics associated with certain gene mutations, suggesting that genetic testing not only aids in diagnosis but also enhances patient counseling for future treatments and prognosis.