During the last two to three decades, a large body of work has revealed the molecular basis
of many human disorders, including retinal and vitreoretinal degenerations and …

Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss,
retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. It is clinically and …

Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …

Purpose: Usher syndrome is a major cause of genetic deafness and blindness. The hearing
loss is usually congenital and the retinitis pigmentosa is progressive and first noticed in early …

Purpose: Autosomal recessive nonsyndromic deafness (ARNSD) is characterized by a high
degree of genetic heterogeneity, with reported mutations in 58 different genes. This study …

Whereas the mechanisms underlying hearing impairment in USH patients are being
unraveled, showing in particular that USH1 proteins are involved in the shaping of the hair …

Background Usher syndrome type II (USH2) is an autosomal recessive disorder
characterised by retinitis pigmentosa (RP) and mild to moderate sensorineural hearing loss …

Retinal dystrophies (RDs) are degenerative diseases of the retina which have marked
clinical and genetic heterogeneity. Common presentations among these disorders include …

Monogenic human retinal dystrophies are a group of disorders characterized by progressive
loss of photoreceptor cells leading to visual handicap. Retinitis pigmentosa is a type of …

Human retinal dystrophies have unparalleled genetic and clinical diversity and are currently
linked to more than 185 genetic loci. Genotyping is a crucial exercise, as human gene …