Related Experiment Video
Updated: Jun 26, 2026

A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
Published on: October 10, 2022
Update on Usher syndrome
Zubin Saihan1, Andrew R Webster, Linda Luxon
1UCL Institute of Ophthalmology & Moorfields Eye Hospital, London, UK. z.saihan@ucl.ac.uk
Purpose Of Review:
The present review addresses the mechanisms, genetics and pathogenesis of Usher syndrome.
Recent Findings:
Recent molecular findings have provided more information regarding the pathogenesis of this disorder and the wide phenotypic variation in both audiovestibular and/or visual systems. Evidence has begun to emerge supporting a theory of a protein interactome involving the Usher proteins in both the inner ear and the retina. This interactome appears to be important for hair cell development in the ear but its role in the retina remains unclear.
Summary:
Understanding clinical disease progression and molecular pathways is important in the progress towards developing gene therapy to prevent blindness due to Usher syndrome as well as delivering prognostic information to affected individuals.
Related Concept Videos
Cushing Syndrome II: Pathophysiology
Cushing Syndrome I: Introduction
Ureters
Disorders of the Urinary System
Urinary tract infections (UTIs) are one of the most common urinary system disorders. They are caused by bacteria that enter the urethra and can spread to the bladder resulting in cystitis. Pyelonephritis is the result of a UTI that has ascended to the level of the...
Nephrotic Syndrome I : Introduction
Nephrotic Syndrome II : Assessment and Medical Management

