What is Usher Syndrome?

Discussion Over 7000 diseases are considered rare disorders according to the National Organization for Rare Disorders® (NORD, rarediseases.org). NORD is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. They have information on about 1200 rare diseases on their website (https://rarediseases.org/for-patients-and-families/information-resources/rare-disease-information/). Hearing loss (HL) is not rare and is a common problem across the ages. It affects 360 million people worldwide which is about 5% of the population. There are many causes of hearing loss and a differential diagnosis can be reviewed here. HL can be classified as congenital vs acquired, with congenital being further classified according to the genetic inheritance (e.g. recessive, dominant, sex-chromosome), onset, severity and whether it is associated with syndromes or not. Retinitis pigmentosa (RP) is a group of retinal degenerative diseases that have loss of photoreceptors and retinal pigment deposits. Non-syndromic RP causes visual deficits over several decades. Initial symptoms are night blindness and later patchy peripheral vision losses that evolves into scotoma, tunnel vision and blindness. There are many syndromes which have RP as part of their symptoms with Usher syndrome (14% of all RP cases) and Bardet Biedel syndrome as two of the most common ones. Learning Point Usher syndrome (US) was described as early as 1858, but it is named fo...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news