Publications by authors named "M Pilar Martin-Gutierrez"
Changes in Waveguiding Cone Photoreceptors and Color Vision in Patients With Diabetes Mellitus.
Invest Ophthalmol Vis Sci
December 2024
Purpose: Although it is well known that photoreceptor damage and color vision loss occur in patients with diabetic retinopathy (DR), the relationship between structural and functional changes in diabetes mellitus (DM) remains unclear. Using highly sensitive measures of photoreceptor structure and function, we aim to determine whether early loss of color sensitivity in DM is also accompanied by decreased cone density.
Methods: Monocular data from 26 patients with DM and 25 healthy controls were examined to assess cone photoreceptor metrics, using confocal adaptive optics scanning light ophthalmoscopy, and red/green (RG) and yellow/blue (YB) color vision thresholds, using the Colour Assessment and Diagnosis test.
Article Synopsis
- Wastewater-based epidemiology (WBE) was used to analyze the consumption of addictive substances in untreated wastewater from seven treatment plants in six Spanish cities between December 2020 and December 2021.
- The study found traces of most illicit drugs, with significant spikes in cannabis and cocaine use during strict COVID-19 restrictions, while MDMA, methamphetamine, and mephedrone consumption rose noticeably in June 2021 after restrictions eased.
- Benzodiazepines, especially lorazepam, were also prevalent, highlighting WBE's effectiveness in tracking drug use trends during the pandemic.
Purpose: We sought to explore whether sex imbalances are discernible in several autosomally inherited macular dystrophies.
Methods: We searched the electronic patient records of our large inherited retinal disease cohort, quantifying numbers of males and females with the more common (non-ABCA4) inherited macular dystrophies (associated with BEST1, EFEMP1, PROM1, PRPH2, RP1L1, and TIMP3). BEST1 cases were subdivided into typical autosomal dominant and recessive disease.
, one of the most frequently inherited retinal dystrophy (IRD)-causing genes, implies a high phenotypic variability. This study aims to analyze the mutational spectrum in one of the largest cohorts worldwide, and to describe novel pathogenic variants and genotype-phenotype correlations. A study of 220 patients from 103 families recruited from a database of 5000 families.
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- This study focuses on understanding the genetic factors behind inherited retinal disease (IRD), a major cause of blindness, by analyzing a large cohort of patients in the UK who received molecular diagnoses from 2003 to 2020.
- Researchers employed various genetic testing methods to identify disease-causing variants among patients, particularly examining variants in the most common IRD genes, such as ABCA4, USH2A, RPGR, PRPH2, and BEST1.
- The findings revealed that 42.7% of families had variants in one of the five most common IRD genes, with specific insights into the prevalence and clustering of mutations in notable genes like USH2A and RPGR