Ocular Manifestations and Genetic Spectrum of Xeroderma Pigmentosum: Insights From an Indian Cohort in a Global Context

XP-C was the predominant subtype, followed by XP-E in patients with XP with ocular involvement. XP-E subtype has been reported for the first time in Indian data in this study. Most variants were frameshift or stop gain. The patients with XP-E subtype may be more at risk of OSN development. These findings underscore the importance of routine ocular surveillance and genetic testing in XP.