Publications by authors named "M J Morillo-Sanchez"
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 PDFPurpose: This article presents a review of the main causes of inherited dual sensory impairment (DSI) with an emphasis on the multidisciplinary approach.
Methods: A narrative review of English literature published before January 2023 was conducted using PubMed, Medline, and Scopus databases. The different causes of inherited DSI are discussed from a multidisciplinary perspective.
To 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.
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