Publications by authors named "Tamara Zompa"
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.*
Background: There is considerable overlap of contributors to cardiovascular disease and the development of age-related macular degeneration (AMD). Compromised ocular microcirculation due to aging and vascular disease contribute to retinal dysfunction and vision loss. Decreased choroidal perfusion is evident in eyes with dry AMD and is thought to play a role in retinal pigment epithelial dysfunction, the rate of development of geographic atrophy, and the development of neovascularization.
View Article and Find Full Text PDFRetinal arterial macroaneurysms (RAM) are characterized by a saccular or fusiform dilation of the retinal artery wall. An 84-year-old Caucasian woman with a medical history of poorly controlled hypertension was diagnosed with RAM in the left eye. Previous macular spectral-domain optical coherence tomography images from the patient were available for comparison.
View Article and Find Full Text PDFArticle Synopsis
- Exfoliation syndrome (XFS) is a significant risk factor for secondary glaucoma, contributing to blindness globally, with known genetic variants in LOXL1 and CACNA1A linked to the condition.
- Researchers conducted a study analyzing samples from multiple countries, discovering a rare protective allele at LOXL1 and refining its association, which had been previously inconsistent across different populations.
- A genome-wide association study identified seven significant genetic loci related to XFS, providing new insights into its biological mechanisms and emphasizing the role of rare LOXL1 variants in the disease's development.