Publications by authors named "Joana Blasco"
Int J Mol Sci
October 2023
Article Synopsis
- High myopia is a severe type of myopia with refractive errors over -6.00 SDs or an eye axial length greater than 26 mm, particularly affecting children under 10 years old.
- The article examines genetic factors in early-onset high myopia by analyzing 21 families and suggesting candidate genes based on whole-exome sequencing results.
- Findings indicate that most families had genetic alterations across several proposed genes, highlighting a potential polygenic inheritance pattern, but further research is needed to confirm these genetic impacts on the condition.
Genes (Basel)
September 2023
Article Synopsis
- * The study conducted at the University Hospital La Paz analyzed the genetic basis of keratoconus in 24 pediatric families using whole-exome sequencing, finding an oligogenic inheritance pattern.
- * Identified candidate genes are linked to various corneal functions and repair processes, indicating potential therapeutic targets, but further research is needed to validate their role in pediatric keratoconus.
Article Synopsis
- * A study involving whole exome sequencing (WES) of 20 Spanish families revealed a genetic diagnosis in 10% and identified potential cataract-causing genes in 35% of the patients.
- * Most variants discovered were of uncertain significance, indicating that further research is necessary, while some specific genes and loci were proposed as candidates for future study.
