+ 8 Eudy et al., 1998 c.5278delG 26 p.D1760MfsX10 a + 1 Present study c.5540_5541dup 27 p.N1848X + 1 Present study c.6319_6324delinsTAAA 32 p.V2107X + 1 Present study c.8890dupT 45 p.W2964LfsX89 + 1 Present study c.8954delG 45 p.G2985AfsX3 + 1 Present [ojrd.biomedcentral.com]

Retinitis pigmentosa first presents with night blindness, but progresses to tunnel vision and eventually blindness. [sema4.com]

In addition: The source of the some of the data is the FFB Consortium, but the analyses, content and conclusions presented herein are solely the responsibility of the authors and have not been reviewed or approved by the Consortium and may not reflect [iovs.arvojournals.org]

• Pallor

  An eye fundus examination ( Figure 3 ) showed bone spicule deposits, attenuation of vessels, and a waxy pallor of the optic nerve head. The macula of this patient was normal. [molvis.org]

  Objective testing includes direct examination of the retina, where an ophthalmologist will find attenuated blood vessels, a waxy pallor, and clumps of dead retinal cells called bone spicules (Carr & Noble, 1981). [asha.org]

• Infertility

  […] neurodegeneration Congenital deafness with Labyrinthine Aplasia, Microtia ,and Microdontia (LAMM) Craniometaphyseal Dysplasia Craniosynostosis Deafness and Myopia Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome (DOORS) Deafness-Infertility [genedx.com]

• Fatigue

  Studies investigating health aspects in persons with hearing loss often find higher levels of fatigue in individuals with hearing loss ( Hua et al., 2013 ).The effort exerted by applying conscious strategies in order to retrieve the information necessary [journal.frontiersin.org]

• Short Arm

  Keats BJB, Nouri N, Pelias MZ, Deininger PL, Litt M: Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11. Am J Hum Genet 1994;54:681–686. [karger.com]

  Most people have the Usher gene on the long arm of chromosome #11. Those individuals of Acadian heritage, most of whom live in Louisiana, have the gene on the short arm of #11. [boystownhospital.org]

• Night Blindness

  Retinitis pigmentosa first presents with night blindness, but progresses to tunnel vision and eventually blindness. [sema4.com]

  This progressive vision loss, called retinitis pigmentosa (RP), is due to degeneration of the photoreceptor cells in the retina, which initially causes night blindness and progresses to tunnel vision. [scholarsbank.uoregon.edu]

  Later in life, they find out that they have retinitis pigmentosa when their eyesight starts to change and they have trouble with night blindness and ‘tunnel vision’. [deafblind.org.au]

• Progressive Loss of Vision

  The disease is characterized by congenital moderate to severe hearing loss, and patients may benefit from the use of hearing aids. Progressive loss of vision due to retinitis pigmentosa begins in late childhood or adolescence. [sema4.com]

  The hearing loss generally occurs at birth or shortly thereafter; while a progressive loss of vision due to retinitis pigmentosa (a degeneration of the retina of the eyes) begins later in life, usually before adolescence. [unr.edu]

• Scotoma

  Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Abnormal electroretinogram 0000512 Hemianopia 0012377 Iris hypopigmentation Light eye color 0007730 Nyctalopia Night blindness Night-blindness Poor night vision [ more ] 0000662 Scotoma [rarediseases.info.nih.gov]

• Peripheral Vision Loss

  Over time, these blind spots gradually enlarge and constrict inwards towards the centre of their vision, eventually leaving a small area of central vision to see out of, like seeing through a tunnel (tunnel vision) Peripheral vision loss Tunnel vision [gene.vision]

  In some cases, hearing loss may worsen over time. Onset of night blindness occurs during the late teens or early twenties. Peripheral vision loss is ongoing, but central vision is usually retained into adulthood. [rarediseases.org]

  The RP consists of a degenerative genetic disease of the retina leading to a gradual loss of peripheral vision and, ultimately, blindness. [frontiersin.org]

• Hearing Impairment

  Hearing impairment in USH2A was compared with that in USH1B to see whether these genotypes can be distinguished by their hearing impairment. We also looked for progression of hearing impairment in the patients with USH2A. [jamanetwork.com]

  Show allHide all Abnormality of the eye Rod-cone dystrophy Ear malformation Congenital sensorineural hearing impairment IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information [ncbi.nlm.nih.gov]

  Patients with Usher syndrome are hearing impaired or profoundly deaf from birth and this can be rehabilitated with hearing aids or a cochlear implant. [clinicaltrials.gov]

  A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. Hear Res. 2016;339:60-8. [medigraphic.com]

  Patients diagnosed with USH2A have congenital hearing impairment that ranges from moderate to severe and experience progressive vision loss beginning in the second decade of life. [scholarsbank.uoregon.edu]

• Progressive Hearing Loss

  Affected patients have retinal degeneration with progressively constricting visual fields and moderate non-progressive hearing loss. Currently, there is no therapy available for vision loss caused by mutations in USH2A. [iob.ch]

  progression of hearing loss. [journals.sagepub.com]

  Instead they experience progressive hearing loss. [eyewiki.aao.org]

  J Med Genet 1996;33:753–757. van Aarem A, Huygen PLM, Pinckers AJLG, Bleeker-Wagemakers EM, Kimberling WJ, Cremers CWRJ: Stable and progressive hearing loss in type 2A Usher’s syndrome. Ann Otol Rhinol Laryngol 1996;105:962–967. [karger.com]

  The subtype IIA, however, may demonstrate progressive hearing loss not found in the other Type II expressions. These children may eventually need a cochlear implant as their hearing loss progresses. [audiologyonline.com]

• Suggestibility

  An exhaustive c.2299delG/control haplotype study suggests that the major source of variability in the USH2A gene is recombination. [digital.csic.es]

  Semiquantitative expression profile analysis suggested a low level of expression for both the long and the short isoform(s) and partial overlap in spatial and temporal expression patterns. [ncbi.nlm.nih.gov]

  Comparisons between USH3A and USH2A suggested a common rod and cone phenotype but a more accelerated time course of rod loss in USH3A. CONCLUSIONS. USH3A and USH2A share patterns of rod and cone dysfunction and retinal structural abnormalities. [miami.pure.elsevier.com]

  Our results suggest that USH2 is caused by USH2A exon deletions in a small fraction of the patients, whereas deletions or duplications in PCDH15 might be rare in Danish Usher patients.European Journal of Human Genetics advance online publication, 25 March [forskning.ku.dk]

There are currently no treatments for the vision loss associated with these inherited retinal diseases. [eyewire.news]

Sensitive, objective outcome measures of retinal degeneration will greatly facilitate development of treatments for Usher syndrome patients. [clinicaltrials.ucsf.edu]

Treatment - Usher syndrome- type 2A Not supplied. Resources - Usher syndrome- type 2A Not supplied. [checkorphan.org]

READ OUR CLINICAL TRIALS GUIDE Existing Treatments and Standard of Care Currently, there is no treatment or cure for Usher syndrome. [fightingblindness.ca]

Prognosis - Usher syndrome- type 2A Not supplied. Treatment - Usher syndrome- type 2A Not supplied. Resources - Usher syndrome- type 2A Not supplied. [checkorphan.org]

Visual prognosis is poor, with studies showing 100% blindness rates in Type I patients and 67% blindness rates in Type II Usher Syndrome by age 60 [13]. [bmcophthalmol.biomedcentral.com]

[…] examinations, the sample size and length of studies (in years) essential to evaluate future genetic therapy in Usher syndrome. 2) To improve counselling of patients with Usher syndrome type 2 and USH2A associated nsRP with detailed information on the prognosis [clinicaltrials.gov]

This information would be useful in determining the prognosis for affected patients and would assist in genetic counseling and in assigning phenotypes for molecular study. [jamanetwork.com]

Outlook / Prognosis What is the prognosis (outlook) for people with Usher syndrome? Although Usher syndrome doesn’t have a cure, children with Usher syndrome can live full and happy lives. [my.clevelandclinic.org]

[…] length of studies (in years) essential to evaluate future genetic therapy in Usher syndrome. 2) To improve counselling of patients with Usher syndrome type 2 and USH2A associated nsRP with detailed information on the prognosis. 3) To identify additional etiological [clinicaltrials.gov]

Study of the etiology of deafness in an institutionalized population in Colombia. Am J Med Genet. 1992;44:405-8. 5. Tamayo ML, Bernal JE, Tamayo GE, Frias JL, Alvira G, Vergara O, et al. Usher syndrome: Results of a screening program in Colombia. [revistabiomedica.org]

Our understanding of, and ability to test for, the underlying etiology of syndromes has been greatly enhanced by the study of the human genome and proteins necessary for normal development. [asha.org]

Since they thought the etiology of the hearing loss was Connexin 26, no one ever mentioned Usher or looked into it. At age 12, the female twin starting having difficulty with her night vision. She wore corrective lenses as well. [audiologyonline.com]

Authored by 60 internationally recognized researchers, the book describes the normal development of the ear, updates the classification and epidemiology of hearing loss, and surveys the usage of audiometric tests and diagnostic medical examinations. [books.google.com]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.es]

Epidemiology The incidence is about 1 in 25,000. About 3-6% of hearing impaired children have the condition. Types 1 and 2 are more common than type 3 and together account for 90-95% of Usher's syndrome and about 10% of all children born deaf. [patient.info]

[…] severe neurosensory deafness,normal vestibular function and retinitis pigmentosa,exhibiting phenotypic variation including atypical cases with vestibular dysfunction Relevant External Links for USH2A Genetic Association Database (GAD) USH2A Human Genome Epidemiology [genecards.org]

It has been shown that Type III occurs more frequently in the Finnish population.[9] Pathophysiology Hearing loss is due to a defect in the inner ear hair cells. [eyewiki.aao.org]

By this an understanding of the related pathophysiology could be gained. [jamanetwork.com]

The retinal phenotype of Usher syndrome: Pathophysiological insights from animal models. Comptes Rendus Biologies. Mar 2014;337(3):167-177 Millan JM, Aller E, Jaijo T, Blanco-Kelly F, Gimenez-Pardo A, Ayuso C. [gene.vision]

Prevention - Usher syndrome- type 2A Not supplied. Diagnosis - Usher syndrome- type 2A The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Usher syndrome, type 2A. [checkorphan.org]

In this study, we explored the potential of antisense oligonucleotides (AONs) to prevent aberrant splicing of USH2A pre-mRNA as a consequence of the c.7595-2144A>G mutation. [repository.ubn.ru.nl]

Foundation Fighting Blindness homepage The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments and cures for people affected by retinitis pigmentosa, macular degeneration, Usher syndrome [fightingblindness.org]

Collectively, this thesis research has enriched our understanding of the functional roles and relationships of the USH2 proteins Usherin, Adgrv1, and Whirlin and provided new data to direct preventative and therapeutic efforts toward improving clinical [scholarsbank.uoregon.edu]

Prevention Can Usher syndrome be prevented? Usher syndrome occurs because of the genes you inherit. At this time, there is no way to prevent it. Genetic testing can determine if you and your partner both carry the gene. [my.clevelandclinic.org]