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Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome, [1] is a rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment.
The mission of the Foundation Fighting Blindness is to fund research that will lead to the prevention, treatment and cures for the entire spectrum of retinal degenerative diseases, including retinitis pigmentosa, macular degeneration, Usher syndrome, Stargardt disease and related conditions.
Pemphigus erythematosus (Senear-Usher Syndrome) is a rare form of pemphigus with features of pemphigus foliaceus and lupus erythematosus. [ 1 ] [ 2 ] It was first described by Francis Senear and Barney Usher at the University of Illinois College of Medicine in 1926. [ 3 ]
Usher syndrome is a rare disease impacting about 20,000 Americans, according to Jeff Holt, Ph.D., chair of the Usher Syndrome Society’s scientific advisory board.
A mutation on the USH2A gene is known to cause 10-15% of a syndromic form of RP known as Usher's Syndrome when inherited in an autosomal recessive fashion. [23] Mutations in four pre-mRNA splicing factors are known to cause autosomal dominant retinitis pigmentosa. These are PRPF3 (human PRPF3 is HPRPF3; also PRP3), PRPF8, PRPF31 and PAP1.
Usher syndrome type 1c is caused by a mutation at the USH1C locus and is characterized by childhood onset of bilateral sensorineural hearing loss, vestibular dysfunction, and vision loss from retinitis pigmentosa. [5] [6] [8] [11] Usher syndrome type 1 is the most severe form of Usher syndrome. [18]
Rebecca Ann Alexander (born February 4, 1979) is an American psychotherapist and author. Deafblind due to Usher syndrome, Alexander wrote a memoir in 2014 about coming to terms with her deteriorating sight as well as her feats as an extreme athlete, such as climbing to the summit of Mount Kilimanjaro.
Usher syndrome, type 3A Out of these, three are rare causes of dwarfism : cartilage–hair hypoplasia , diastrophic dysplasia and Mulibrey nanism . Four genetically distinct subtypes of neuronal ceroid lipofuscinosis are found in the Finnish heritage: CLN1 , CLN3 , CLN5 , and CLN8 . [ 8 ]