Publications by authors named "Maria Emilia Aucar"
Article Synopsis
- This study conducts the first large-scale genetic analysis of inherited eye diseases in Argentina, involving a retrospective analysis of medical records from 22 ophthalmology and genetics services across 13 provinces, including 773 patients primarily with inherited retinal diseases.*
-
- The most prevalent condition identified was retinitis pigmentosa (RP), comprising 62% of cases, with the most commonly affected genes being USH2A, RPGR, and ABCA4, which are linked to various types of retinal dystrophies.*
-
- Notably, the research uncovered 35% of previously unreported pathogenic variants, highlighting the genetic diversity in inherited eye diseases in Argentina and establishing a foundational reference for future studies and clinical applications.*
