Usher syndrome has three subtypes, each being clinically and genetically heterogeneous
characterised by sensorineural hearing loss and retinitis pigmentosa (RP), with or without …

Retinitis pigmentosa, defined more properly as cone–rod dystrophy, is a paradigm of
inherited diffuse retinal dystrophies, one of the rare diseases with the highest prevalence in …

Inherited retinal degenerations (IRDs) represent a diverse group of progressive, visually
debilitating diseases that can lead to blindness in which mutations in genes that are critical …

Purpose To determine the rate of progression and optimal follow-up time in patients with
advanced-stage retinitis pigmentosa (RP) comparing the use of fundus autofluorescence …

Usher syndrome (USH) is an autosomal recessive (AR) disorder that permanently and
severely affects the senses of hearing, vision, and balance. Three clinically distinct types of …

Mutations in the MYO7A gene lead to Usher syndrome type 1B (USH1B), a disease
characterized by congenital deafness, vision loss, and balance impairment. To create a …

Usher syndrome (USH) encompasses a group of clinically and genetically heterogenous
disorders defined by the triad of sensorineural hearing loss (SNHL), vestibular dysfunction …

In this report, we assess the natural progression rate of retinitis pigmentosa (RP) over an
average of three years using spectral-domain optical coherence tomography (SD-OCT) and …

Usher syndrome (USH) is the most common form of monogenic deaf‐blindness. Loss of
vision is untreatable and there are no suitable animal models for testing therapeutic …

The past decade has seen major advances in gene-based therapies, many of which show
promise for translation to human disease. At the forefront of research in this field is ocular …