Localization of Usher syndrome type II to chromosome 1q
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Etiological diagnosis in the hearing impaired newborn: Proposal of a flow chart
2011, International Journal of Pediatric OtorhinolaryngologyCitation Excerpt :Performing a full-field flash electroretinography (ERG) to rule out a retinal dystrophy as part of an Usher Syndrome is still being debated in the literature. As Usher Syndrome is the most common eye and ear disorder with a prevalence of 3.5 per 100 000 [12] and an estimated 10% of children with sensorineural hearing loss have Usher Syndrome, some authors propose to perform an ERG in all cases with congenital bilateral hearing loss of unknown etiology, whilst others only advocate this in case of congenital bilateral severe to profound hearing loss and/or in cases with a history of delayed motor milestones [11,13]. As the retinal dystrophy is generally undetectable at birth and in early childhood, it is advisable to only perform additional testing of retinal function (ERG) beyond the age of six in those cases with bilateral severe to profound sensorineural hearing loss.
Usher syndrome: An example of genetic heterogeneity
2005, Medicina ClinicaRetinitis Pigmentosa and Allied Disorders
2005, Retina: Fourth EditionMolecular genetic study of Usher syndrome in Spain
2005, Acta Otorrinolaringologica EspanolaUsher syndrome: Genetics of a human ciliopathy
2021, International Journal of Molecular Sciences