Publications by authors named "Nieves-Moreno M"
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.
Neovascular Glaucoma in Children: A case series and a review of the literature.
Eur J Ophthalmol
November 2022
Purpose: To study the uncommon causes and treatment options for neovascular glaucoma in children.
Patients And Methods: A review of the literature on neovascular glaucoma in children was conducted and we present three cases of neovascular glaucoma in children.
Results: We present three cases of neovascular glaucoma: two cases were secondary to a retinal vasoproliferative tumor-one to neurofibromatosis type 1 and the other to exudative retinopathy secondary to mild retinopathy of prematurity-and one case was secondary to a central retina vein occlusion secondary to an optic nerve glioma.
Article Synopsis
- * Out of 445 infants screened, 6 (1.4%) were found with severe corneal opacities, primarily among those with very low gestational ages and birth weights, indicating a strong correlation between these factors and the condition.
- * The findings highlight lagophthalmos as a significant risk factor for corneal opacities, with continuous positive airway pressure (CPAP) therapy also potentially contributing; timely use of lubricants for at-risk infants is essential to prevent lasting damage.
Purpose: To examine the reproducibility of spectral domain optical coherence tomography (SD-OCT) segmented ganglion cell complex and circumpapillary retinal nerve fiber layer (cpRNFL) measurements in children with primary congenital glaucoma (PCG) in comparison with healthy children.
Methods: 12 children with PCG (G1) and 24 healthy children (G2) were recruited. The following SD-OCT measurements (Spectralis, Heidelberg Engineering) were made in one eye per child: total macular thickness (MT), thicknesses in several subfields and volumes of the three inner macular layers, macular retinal nerve fiber layer (mRNFL), ganglion cell layer (GCL), and inner plexiform layer (IPL) and cpRNFL thickness.
Article Synopsis
- Congenital aniridia is a complex eye disorder linked to mutations in a specific gene, causing severe visual impairment with highly variable clinical features.
- A study on eight patients from different families revealed only two with classic aniridia, while others showed related issues like keratopathy and cataracts.
- The diagnosis of milder aniridia forms can be difficult, but it's crucial for clinicians to recognize these variations and consider genetic testing for accurate diagnoses and future risk management.
Our purpose was to identify mutations responsible for non-syndromic congenital cataracts through the implementation of next-generation sequencing (NGS) in our center. A sample of peripheral blood was obtained from probands and willing family members and genomic DNA was extracted from leukocytes. DNA was analyzed implementing a panel (OFTv2.
View Article and Find Full Text PDFObjective: To determine the reliability and validity of VOG Perea® (VP) and GazeLab® (GL), their correlation and concordance with cover test (CT), and define the margins of variability of the measurement of angle deviation in primary position.
Methods: Forty-four orthotropic patients were included. Alternating prism CT, an examination with VP, and GL were performed.
Primary Immunodeficiency Diseases Presenting with Chalazia as the First Manifestation.
Ocul Immunol Inflamm
February 2021
: Ocular manifestations in primary immunodeficiency diseases are rare, but they can be the initial manifestation. This can lead to the prompt diagnosis and treatment of the disease and achieve a reduction of severe systemic complications.: We present two cases where a recurrent giant chalazion was the symptom that led to the diagnosis and early treatment of a patient with X-linked chronic granulomatous disease (CGD), and a patient with hyperimmunoglobulin E syndrome.
View Article and Find Full Text PDFObjective: To compare corneal densitometry and topography variables in patients with primary congenital glaucoma (PCG) and healthy subjects.
Material And Methods: Cross sectional study, consecutive recruitment with gender- and age-matched control group. Forty eyes of 40 patients in each group were studied with Pentacam corneal topography.
Purpose: To analyse the association between the thickness of the circumpapillary retinal nerve fibre layer (cpRNFL) and the thickness of the inner macular layers with the mean deviation of the visual field (MD) in children with primary congenital glaucoma (PCG).
Material And Methods: A total of 41 children with PGC were included in the study. They all had a complete ophthalmological examination, including visual acuity, intraocular pressure, funduscopy, Octopus™ visual field, as well as circumpapillar and macular spectral domain optical coherence tomography (SD-OCT).
Objective: To examine differences in individual retinal layer thicknesses measured by spectral domain optical coherence tomography (SD-OCT) (Spectralis®) produced with age and according to sex.
Design: Cross-sectional, observational study.
Methods: The study was conducted in 297 eyes of 297 healthy subjects aged 18 to 87 years.
Purpose: This study examines the capacity to detect glaucoma of inner macular layer thickness measured by spectral-domain optical coherence tomography (SD-OCT) using a new normative database as the reference standard.
Methods: Participants ( = 148) were recruited from Leuven (Belgium) and Zaragoza (Spain): 74 patients with early/moderate glaucoma and 74 age-matched healthy controls. One eye was randomly selected for a macular scan using the Spectralis SD-OCT.
Article Synopsis
- The study assessed the effectiveness of a new rim analysis software using spectral-domain optical coherence tomography (SD-OCT) against traditional RNFL thickness measurements in patients with moderate myopia.
- It involved 65 participants, dividing them into two groups based on their spherical refractive errors, and utilized various SD-OCT analyses to compare results.
- Findings showed that BMO-MRW measurements resulted in fewer false-positives compared to RNFL thickness, suggesting this new method could offer more accurate assessments for healthy moderate myopic eyes.
Topical brinzolamide in congenital nystagmus: A retrospective study.
Arch Soc Esp Oftalmol
December 2017
Objective: To evaluate the effect of treatment with topical brinzolamide on visual acuity and nystagmus intensity in patients with congenital nystagmus.
Material And Methods: A retrospective study was designed in which the clinical records of 14 patients with congenital nystagmus were reviewed. All patients underwent a complete ophthalmological examination and a Perea video-oculography (VOG) before, and three days after, initiation of treatment with topical brinzolamide (Azopt).
Purpose: Develop the first normative database of the thickness of every inner retinal layer in the macular area in a healthy, Caucasian population between 18 to 87 years old, using Spectralis Optical Coherence Tomography (OCT).
Methods: On this transversal, observational study, 300 patients between 18 to 87 years old and without an ophthalmological condition were recruited. Macular OCT scans were performed on all patients (Spectralis OCT, Heidelberg Engineering).
[Monocular non-organic visual loss after a cranioencephalic trauma].
Arch Soc Esp Oftalmol
September 2015