Hearing loss (HL) is the most prevalent sensory impairment in both childhood and
adulthood. 1, 2 According to the last update of the World Health Organization (WHO) …

Purpose Current sequencing strategies can genetically solve 55–60% of inherited retinal
degeneration (IRD) cases, despite recent progress in sequencing. This can partially be …

Rare or novel gene variants in patients with proliferative diabetic retinopathy may contribute
to disease development. We performed whole exome sequencing (WES) on patients at the …

Usher syndrome (USH), the most prevalent cause of hereditary deafness–blindness, is an
autosomal recessive and genetically heterogeneous disorder. Three clinical subtypes …

Background Combined retinal degeneration and sensorineural hearing impairment is mostly
due to autosomal recessive Usher syndrome (USH 1: congenital deafness, early retinitis …

We investigated hearing impairment (HI) in 51 families from Ghana with at least two affected
members that were negative for GJB2 pathogenic variants. DNA samples from 184 family …

Pericentral retinitis pigmentosa (RP) is an atypical form of RP that affects the near-peripheral
retina first and tends to spare the far periphery. This study was performed to further define …

Usher syndrome (USH) is an inherited disorder characterized by sensorineural hearing loss
(SNHL), retinitis pigmentosa (RP)-related vision loss, and vestibular dysfunction. USH …

Purpose To describe in detail cases with an initial diagnosis of Leber congenital amaurosis
that were later found to have a hemizygous mutation in the CACNA1F gene. Methods The …

Purpose Usher syndrome accounts for about 50% of all hereditary deaf-blindness cases.
The most severe form of this syndrome, Usher syndrome type I (USH1), is characterized by …