Publications by authors named "M Nieves-Moreno"
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.
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.
A clinical and genetic study was conducted with pediatric patients and their relatives with optic atrophy 1 ( mutations to establish whether there is a genotype-phenotype correlation among the variants detected within and between families. Eleven children with a confirmed mutation were identified during the study period. The main initial complaint was reduced visual acuity (VA), present in eight patients of the cohort.
View Article and Find Full Text PDFArticle Synopsis
- Early-onset high myopia (EoHM) is defined as having significant refractive errors before the age of 10, leading to various eye issues.
- A study involving 43 families with EoHM was conducted, where genetic analysis revealed that 23.9% of families had detectable pathogenic variants, while 76.1% had variants of unknown significance.
- The research highlights the need for comprehensive genetic testing in EoHM cases to improve patient management, prognosis, and genetic counseling efforts.