Usher syndrome type III can mimic other types of usher syndrome

From: The Annals of Otology, Rhinology & Laryngology | Date: June 1, 2003| Author: | Copyright information

Clinical and genetic characteristics are presented of 2 patients from a Dutch Usher syndrome type III family who have a new homozygous USH3 gene mutation: 149-152delCAGG + insTGTCCAAT. One individual (IV: 1) is profoundly hearing impaired and has normal vestibular function and retinitis punctata albescens (RPA). The other individual is also profoundly hearing impaired, but has well-developed speech, vestibular areflexia, and retinitis pigmentosa sine pigmento (RPSP). These findings suggest that Usher syndrome type III can be clinically misdiagnosed as either Usher type I or II; that Usher ...

Read all of this article with a FREE trial to HighBeam Research

Related newspaper, magazine, and trade journal articles from HighBeam Research

(Including press releases, facts, information, and biographies)

Making Progress With Usher Syndrome
; ...Typically, children with Usher syndrome type 1 (USH1) have profound deafness...childhood. Children born with Usher syndrome type 2 (USH2) have congenital moderate-to-se...teenage years. Children with Usher syndrome type 3 (USH3) are born with normal...
Usher Gene Discovered
; ...responsible for most cases of Usher syndrome type 1 in Ashkenazi Jews. The syndrome...Ashkenazi Jewish patients with Usher syndrome type 1 from 12 unrelated families...causes a large portion of Usher syndrome type 1 in the Ashkenazi Jewish...
Hearing loss in Usher syndrome type II is nonprogressive
; ...to severe hearing loss in Usher syndrome type II (Usher II) is controversial...with a clinical diagnosis of Usher syndrome type II intraindividually and interindividually...KEY WORDS - hearing loss, Usher syndrome type 11. INTRODUCTION Usher ...
Letter to the editor
; ...this journal on hearing impairment in Usher syndrome type II (Hearing loss in Usher syndrome type II is nonprogressive. Ann Otol Rhinol Laryngol 2002;111:1108-11). The diagnosis of Usher syndrome type II is based on clinical characteristics...
Wonder kids: How Usher takes its toll.
; There are three types of Usher Syndrome, all with varying degrees of blindness...lose function over several years. Usher Syndrome is an inherited condition. It is possible to be a carrier of Usher Syndrome but to be unaffected by the symptoms...
Around the World
; ...her friends. She also has Usher syndrome type 1 (USH1), a genetic disorder...immediately diagnosed with Usher syndrome. Because vision loss occurs...See "Making Progress with Usher Syndrome," page 34.) "Megan was diagnosed...loss. We hadn't heard about Usher ...
Wonder kids: Facing up to gradual loss of sight.
; ...people like Bethany who suffer from Usher Syndrome. Lucy Drescher, Usher specialist for Sense, said: 'Usher Syndrome is one of the most challenging...enjoy their leisure activities.' Usher Syndrome causes deafness from birth and...
Mining the Gene Pool
; ...debilitating and heartbreaking Usher Syndrome Ed Silverman New Jersey FOUR YEARS...but devastating malady called Usher Syndrome that eventually renders its victims...a large proportion of cases of Usher Syndrome Type 1, the most crippling version...for Ashkenazis with that ...
Acadian usher syndrome.
; ...blindness in humans. The gene for Type 1C Usher syndrome (USH1C) is segregating in a small population...the mutated gene that causes Acadian Usher syndrome. This effort marks the first utilization...heritable disease in humans. Key words: Usher syndrome, Acadian, hereditary deafness, ...
Role model program for deaf-blind children shows the way
; ...therapeutic tools for helping children with Usher Syndrome - the leading cause of deaf-blindness...in Tel Aviv, pairs children who have Usher Syndrome with mentors in their twenties who...Program coordinator Yael Halevi, who has Usher Syndrome herself, explains that for most of...