Publications by authors named "M Ramos-Jimenez"
Article Synopsis
- Pathogenic variants in the CLDN19 gene lead to Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC), which also includes eye-related issues.
- A 25-year-old woman with FHHNC showed significant renal involvement and various eye problems, including high myopia and atrophic retinal plaques, alongside genetic testing that revealed a specific mutation in the CLDN19 gene.
- The study suggests that FHHNC is linked to diverse ocular changes, and the described retinal issues in this patient may indicate a more favorable visual outlook than previously documented, highlighting the need for more research in this area.
Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of disorders that often severely impair vision. Some patients manifest poor central vision as the first symptom due to cone-dysfunction, which is consistent with cone dystrophy (COD), Stargardt disease (STGD), or macular dystrophy (MD) among others. Here, we aimed to identify the genetic cause of autosomal dominant COD in one family.
View Article and Find Full Text PDFTo enhance the use of Whole Genome Sequencing (WGS) in clinical practice, it is still necessary to standardize data analysis pipelines. Herein, we aimed to define a WGS-based algorithm for the accurate interpretation of variants in inherited retinal dystrophies (IRD). This study comprised 429 phenotyped individuals divided into three cohorts.
View Article and Find Full Text PDFMutations in the ABCA4 gene are a common cause of Stargardt disease; however, other retinal phenotypes have also been associated with mutations in this gene. We describe an observational case report of an unusual clinical phenotype of Stargardt disease. The ophthalmological examination included best corrected visual acuity, color and autofluorescence photography, fluorescein angiography, optical coherence tomography, and electrophysiology tests.
View Article and Find Full Text PDFPurpose: To describe the clinical and genetic characteristics (novel mutation in gene) of a Spanish patient with autosomal recessive bestrophinopathy (ARB).
Methods: The detailed ophthalmological examination included best corrected visual acuity (BCVA), color and autofluorescence photography, fluorescein angiography, optical coherence tomography, and electrophysiology tests. A next-generation sequencing (NGS) strategy was applied to the index patient, and then sequenced in an Illumina NextSeq500 system.