Purpose: To describe a patient with a rare co-occurrence of Usher syndrome type 1C (USH1C) and renal disease, suspected to be secondary to Alport syndrome.
Method: Case report and literature review of cases with Usher syndrome and renal failure. Clinical examination, color fundus photography, visual field tests, electroretinography and whole exome sequencing were used to diagnose and document the patient's clinical presentation.
Results: An 18-year-old female with known history of congenital hearing loss and chronic renal failure, presents with progressive night and peripheral visual impairment suspicious for an inherited retinal disease. Visual field testing, fundus exam and electroretinography findings supported the diagnosis of Usher syndrome. Whole exome sequencing (WES) identified a novel homozygous frameshift variant (c.238del) in USH1C. WES also identified a homozygous COL4A3 variant of unknown significance, which may be responsible for concomitant Alport syndrome.
Conclusion: By presenting this rare case of co-occurring Usher syndrome Type 1 and renal failure, we highlight the importance of conducting further investigations that could reveal an additional underlying etiology when these entities are present.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1097/ICB.0000000000001575 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Introduction: The role of female sex hormones and their influence on asthma's development and natural history remain uncertain. Our study aims to enhance understanding of exogenous sex hormones' role in asthma development and manifestation, considering phenotypic heterogeneity and focusing on metabolic syndrome-linked asthma that has shown increased severity in females.
Methods And Analysis: A cohort study using primary care data from the Clinical Practice Research Datalink (CPRD) databases linked with additional data sources (Hospital Episode Statistics, ethnicity and deprivation) will include individuals aged 16-70 years, spanning 1 January 2005 to 31 December 2019.
The USH3A causative gene clarin1 functions in Müller glia to maintain retinal photoreceptors.
PLoS Genet
March 2025
Department Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin, United States of America.
Mutations in CLRN1 cause Usher syndrome type IIIA (USH3A), an autosomal recessive disorder characterized by hearing and vision loss, and often accompanied by vestibular dysfunction. The identity of the cell types responsible for the pathology and mechanisms leading to vision loss in USH3A remains elusive. To address this, we employed CRISPR/Cas9 technology to delete a large region in the coding and untranslated (UTR) region of zebrafish clrn1.
View Article and Find Full Text PDFHealth system characteristics and evidence-based asthma care.
Front Allergy
February 2025
Department of Respiratory Medicine, Sir Charles Gairdner Hospital, Perth, WA, Australia.
Asthma is a common and complex syndrome, and a major cause of morbidity and healthcare costs. Clinicians have an array of evidence-based investigations and effective interventions at their disposal, but outcomes have not improved as much as trial evidence would suggest they could. This article discusses drivers behind this discrepancy using illustrative examples to highlight information gaps and barriers that impair the delivery of community and emergency asthma care and appropriate referral to specialist asthma services.
View Article and Find Full Text PDFUsher syndrome (USH), the most common form of deaf-blindness, displays extensive genetic, allelic, and phenotypic heterogeneity. The dual sensory impairment associated with this disorder makes Usher syndrome an important target for gene therapy, with dozens of published preclinical studies targeting multiple USH genes and using multiple gene therapy strategies. Nine genes have been conclusively linked to Usher syndrome; however, data on prevalence and contribution of specific genetic variants is lacking.
View Article and Find Full Text PDFSequencing technologies have long limited the comprehensive investigation of large transcripts associated with inherited retinal diseases (IRDs) like Usher syndrome, which involves 11 associated genes with transcripts up to 19.6 kb. To address this, we used PacBio long-read mRNA isoform sequencing (Iso-Seq) following standard library preparation and an optimized workflow to enrich for long transcripts in the human neural retina.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!