Publications by authors named "Carolina Prado-Larrea"
Inherited and developmental eye diseases are quite diverse and numerous, and determining their genetic cause is challenging due to their high allelic and locus heterogeneity. New molecular approaches, such as whole exome sequencing (WES), have proven to be powerful molecular tools for addressing these cases. The present study used WES to identify the genetic etiology in ten unrelated Mexican pediatric patients with complex ocular anomalies and other systemic alterations of unknown etiology.
View Article and Find Full Text PDFTEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families.
Am J Med Genet A
October 2024
Article Synopsis
- - Primary congenital glaucoma (PCG) is a significant cause of vision loss in children, characterized by high intraocular pressure leading to optic nerve damage and various symptoms like excessive tearing and light sensitivity.
- - Diagnosis and treatment are crucial for preserving vision in affected individuals, as PCG can manifest in diverse ways among patients.
- - The study focuses on Mexican patients with TEK-related PCG, identifying the TEK gene as a key factor in the disease and reporting 10 new mutations that contribute to its development.
Purpose: To assess the short and long-term changes in Visual Field (VF) Mean Deviation (MD), Visual Field Index (VFI), and intraocular pressure (IOP) after femtosecond laser-assisted cataract surgery (FLACS) in glaucomatous eyes.
Materials And Methods: Interventional, prospective case series. Patients with glaucoma, who required cataract surgery were included.