Inherited retinal diseases (IRDs) are a clinically complex and heterogenous group of visual
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …

Usher syndrome (USH) is the most common cause of deaf–blindness in humans, with a
prevalence of about 1/10,000 (~ 400,000 people worldwide). Cochlear implants are …

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

Bilallelic variants in the USH2A gene can cause Usher syndrome type 2 and non-syndromic
retinitis pigmentosa. In both disorders, the retinal phenotype involves progressive rod …

Cilia are hair-like projections found on almost all cells in the human body. Originally
believed to function merely in motility, the function of solitary non-motile (primary) cilia was …

Usher syndrome (USH) is an autosomal recessive syndromic ciliopathy characterized by
sensorineural hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction …

Inherited retinal dystrophies (IRDs) are characterized by progressive photoreceptor
degeneration and vision loss. Usher syndrome (USH) is a syndromic IRD characterized by …

Inherited retinal diseases (IRDs), which are among the most common genetic diseases in
humans, define a clinically and genetically heterogeneous group of disorders. Over 80 forms …

There is an emblematic clinical and genetic heterogeneity associated with inherited retinal
diseases (IRDs). The most common form is retinitis pigmentosa (RP), a rod-cone dystrophy …

Deep intronic mutations leading to pseudoexon (PE) insertions are underestimated and
most of these splicing alterations have been identified by transcript analysis, for instance, the …