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 (USH) is the most common genetic condition responsible for combined loss
of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed …

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

Inherited retinal diseases (IRDs) are a group of ocular conditions characterized by an
elevated genetic and clinical heterogeneity. They are transmitted almost invariantly as …

Usher syndrome (USH) is an autosomal recessively inherited disease characterized by
sensorineural hearing loss (SNHL) and retinitis pigmentosa (RP) with or without vestibular …

Combined vision and hearing loss, also known as dual sensory impairment, can occur in
several genetic conditions, including ciliopathies such as Usher and Bardet-Biedl syndrome …

A 7-month-old Doberman Pinscher dog presented with progressive neurological signs and
brain atrophy suggestive of a hereditary neurodegenerative disorder. The dog was …

Mucopolysaccharidoses comprise a set of genetic diseases marked by an enzymatic
dysfunction in the degradation of glycosaminoglycans in lysosomes. There are eight …

Multiple sulfatase deficiency (MSD) is an ultrarare lysosomal storage disorder due to
deficiency of all known sulfatases. MSD is caused by mutations in the Sulfatase Modifying …

Mucopolysaccharidosis IIIA (MPS IIIA, Sanfilippo syndrome type A), a paediatric
neurological lysosomal storage disease, is caused by impaired function of the enzyme N …