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Journal articles on the topic 'Usher syndrome type 1J'

Author: Grafiati

Published: 11 March 2023

Last updated: 31 July 2025

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1

Riazuddin, Saima, Inna A. Belyantseva, Arnaud P. J. Giese, et al. "Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48." Nature Genetics 44, no. 11 (2012): 1265–71. http://dx.doi.org/10.1038/ng.2426.

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2

Jan, A. "Mutations in CIB2 calcium and integrin-binding protein disrupt auditory hair cell calcium homeostasis in Usher syndrome type 1J and non-syndromic deafnessDFNB48." Clinical Genetics 83, no. 4 (2013): 317–18. http://dx.doi.org/10.1111/cge.12100.

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3

Castiglione, Alessandro, and Claes Möller. "Usher Syndrome." Audiology Research 12, no. 1 (2022): 42–65. http://dx.doi.org/10.3390/audiolres12010005.

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Usher syndrome (USH) is the most common genetic condition responsible for combined loss of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed in some cases. The syndrome was first described by Albrecht von Graefe in 1858, but later named by Charles Usher, who presented a large number of cases with hearing loss and retinopathy in 1914. USH has been grouped into three main clinical types: 1, 2, and 3, which are caused by mutations in different genes and are further divided into different subtypes. To date, nine causative genes have been identified and conf

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4

Pennings, Ronald J. E., August F. Deutman, Randall R. Fields, William J. Kimberling, Patrick L. M. Huygen, and W. R. J. Cremers. "Usher Syndrome Type III Can Mimic other Types of Usher Syndrome." Annals of Otology, Rhinology & Laryngology 112, no. 6 (2003): 525–30. http://dx.doi.org/10.1177/000348940311200608.

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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 synd

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5

Reisser, Christoph F. V., William J. Kimberling, and Christian R. Otterstedde. "Hearing Loss in Usher Syndrome Type II is Nonprogressive." Annals of Otology, Rhinology & Laryngology 111, no. 12 (2002): 1108–11. http://dx.doi.org/10.1177/000348940211101208.

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Usher syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss and progressive visual loss secondary to retinitis pigmentosa. In the literature, a possible progression of the moderate to severe hearing loss in Usher syndrome type II (Usher II) is controversial. We studied the development of the hearing loss of 125 patients with a clinical diagnosis of Usher syndrome type II intraindividually and interindividually by repeatedly performing complete audiological and neuro-otologic examinations. Our data show a very characteristic slope of the hearing curve in all Us

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6

Sharefah D. A. Al Issa, Dina S Bashammakh, and Nasir AM Al Jurayyan. "Diabetes mellitus type 1(DM-1) in a child with usher syndrome." World Journal of Biology Pharmacy and Health Sciences 16, no. 1 (2023): 229–32. http://dx.doi.org/10.30574/wjbphs.2023.16.1.0377.

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Usher Syndrome is a rare genetic (autosomal recessive) disorder that characterized by partial or total hearing loss caused by defective inner ear and vision loss caused by retinitis pigmentosa which worsens by time. We report on a 9 year-old child who was diagnosed by genetic testing via whole exome sequencing (WES) with Usher Syndrome. At the age of two years and three months, the patient developed type 1 Diabetes Mellitus (DM-1). The aim of this article is to provide a comprehensive review of Usher Syndrome. The postulated association of Usher Syndrome and diabetes mellitus type 1 pathogenes

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7

Sharefah, D. A. Al Issa, S. Bashammakh Dina, and AM Al Jurayyan Nasir. "Diabetes mellitus type 1(DM-1) in a child with usher syndrome." World Journal of Biology Pharmacy and Health Sciences 16, no. 1 (2023): 229–32. https://doi.org/10.5281/zenodo.10791233.

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Usher Syndrome is a rare genetic (autosomal recessive) disorder that characterized by partial or total hearing loss caused by defective inner ear and vision loss caused by retinitis pigmentosa which worsens by time. We report on a 9 year-old child who was diagnosed by genetic testing via whole exome sequencing (WES) with Usher Syndrome. At the age of two years and three months, the patient developed type 1 Diabetes Mellitus (DM-1). The aim of this article is to provide a comprehensive review of Usher Syndrome. The postulated association of Usher Syndrome and diabetes mellitus type 1 pathogenes

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8

Keats, Bronya J. B., Alexander A. Todorov, Larry D. Atwood, et al. "Linkage studies of usher syndrome type 1: Exclusion results from the usher syndrome consortium." Genomics 14, no. 3 (1992): 707–14. http://dx.doi.org/10.1016/s0888-7543(05)80172-7.

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9

Ouyang, Xiao Mei, Denise Yan, Li Lin Du, et al. "Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population." Human Genetics 116, no. 4 (2005): 292–99. http://dx.doi.org/10.1007/s00439-004-1227-2.

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10

Toms, Maria, Waheeda Pagarkar, and Mariya Moosajee. "Usher syndrome: clinical features, molecular genetics and advancing therapeutics." Therapeutic Advances in Ophthalmology 12 (January 2020): 251584142095219. http://dx.doi.org/10.1177/2515841420952194.

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Usher syndrome has three subtypes, each being clinically and genetically heterogeneous characterised by sensorineural hearing loss and retinitis pigmentosa (RP), with or without vestibular dysfunction. It is the most common cause of deaf–blindness worldwide with a prevalence of between 4 and 17 in 100 000. To date, 10 causative genes have been identified for Usher syndrome, with MYO7A accounting for >50% of type 1 and USH2A contributing to approximately 80% of type 2 Usher syndrome. Variants in these genes can also cause non-syndromic RP and deafness. Genotype–phenotype correlations have be

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11

Aarem, Annelies Van, Mariette Wagenaar, Alfred J. L. G. Pinckers, et al. "Ophthalmologic findings in Usher syndrome type 2A." Ophthalmic Genetics 16, no. 4 (1995): 151–58. http://dx.doi.org/10.3109/13816819509057856.

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12

Ouyang, XM, D. Yam, JF Hejtmancik, et al. "Mutational spectrum in Usher syndrome type II." Clinical Genetics 65, no. 4 (2004): 288–93. http://dx.doi.org/10.1046/j.1399-0004.2004.00216.x.

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13

Pieke Dahl, S., W. J. Kimberling, M. B. Gorin, et al. "Genetic heterogeneity of Usher syndrome type II." Journal of Medical Genetics 30, no. 10 (1993): 843–48. http://dx.doi.org/10.1136/jmg.30.10.843.

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14

Yang, Jun. "Current understanding of usher syndrome type II." Frontiers in Bioscience 17, no. 1 (2012): 1165. http://dx.doi.org/10.2741/3979.

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15

FRIEDMAN, THOMAS B., JULIE M. SCHULTZ, and ZUBAIR M. AHMED. "Usher Syndrome Type 1: Genotype–Phenotype Relationships." Retina 25, Supplement (2005): S40—S42. http://dx.doi.org/10.1097/00006982-200512001-00016.

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16

Baghdadi, Moetez, Simona Caldani, Audrey Maudoux, Isabelle Audo, Maria Pia Bucci, and Sylvette R. Wiener-Vacher. "Subjective visual vertical in patients with Usher syndrome." Journal of Vestibular Research 30, no. 4 (2020): 275–82. http://dx.doi.org/10.3233/ves-200711.

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Highlights • The estimation of verticality (assessed with Subjective visual vertical (SVV)) is more variable in patients with Usher (type I and II) compared to healthy participants. • Visual and vestibular information are essential for the visual vertical (VV) perception. • A reweighting of sensory information from the central nervous system seems to be able to compensate for the absence of vestibular function in patients with Usher type I.

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17

Sahu, Sabin, and Sanjay Kumar Singh. "Usher syndrome Type I in an adult Nepalese male: a rare case report." Nepalese Journal of Ophthalmology 9, no. 2 (2018): 203–5. http://dx.doi.org/10.3126/nepjoph.v9i2.19271.

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Usher syndrome, also known as retinitis pigmentosa-dysacusis syndrome, is an extremely rare genetic disorder, characterized by retinitis pigmentosa (RP) and congenital sensorineural hearing loss. It has been estimated to account for 3-6% of the congenitally deaf population, upto 8-33% of individuals with RP and half of all cases with combined deafness and blindness (Vernon M,1969; Boughman JA et al,1983). The prevalence of Usher syndrome have been reported to range from 3.5 to 6.2 per 100,000 in different populations (Vernon M,1969; Boughman JA et al,1983; Yan D et al, 2010).We report a case o

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18

Rosiński, Mateusz, Kamila Rosińska, Julia Natalia Łojewska, et al. "Impact of Usher syndrome on athletic performance - navigating silence and darkness." Quality in Sport 24 (October 7, 2024): 54714. http://dx.doi.org/10.12775/qs.2024.24.54714.

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Usher syndrome (USH) is an autosomal recessive genetic disorder and a leading cause of simultaneous hearing and vision loss. The aim of this paper is to provide a detailed review of Usher syndrome, including its pathogenesis, clinical symptoms, diagnostic methods, the role of sport in the lives of athletes and sportspeople with Usher syndrome and available therapeutic options. Understanding this disease is crucial for early detection and the implementation of appropriate therapeutic interventions. Currently, Usher syndrome is classified into three main types (I, II, and III), differentiated by

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19

Astuto, Lisa M., Michael D. Weston, Carol A. Carney, et al. "Genetic Heterogeneity of Usher Syndrome: Analysis of 151 Families with Usher Type I." American Journal of Human Genetics 67, no. 6 (2000): 1569–74. http://dx.doi.org/10.1086/316889.

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20

Mansard, Luke, David Baux, Christel Vaché, et al. "The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A." International Journal of Molecular Sciences 22, no. 24 (2021): 13294. http://dx.doi.org/10.3390/ijms222413294.

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Usher syndrome is an autosomal recessive disorder characterized by congenital hearing loss combined with retinitis pigmentosa, and in some cases, vestibular areflexia. Three clinical subtypes are distinguished, and MYO7A and USH2A represent the two major causal genes involved in Usher type I, the most severe form, and type II, the most frequent form, respectively. Massively parallel sequencing was performed on a cohort of patients in the context of a molecular diagnosis to confirm clinical suspicion of Usher syndrome. We report here 231 pathogenic MYO7A and USH2A genotypes identified in 73 Ush

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21

Zaw, Khine, Livia S. Carvalho, May T. Aung-Htut, et al. "Pathogenesis and Treatment of Usher Syndrome Type IIA." Asia-Pacific Journal of Ophthalmology 11, no. 4 (2022): 369–79. http://dx.doi.org/10.1097/apo.0000000000000546.

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22

Rani, Alka, Nikhil Pal, Raj Vardhan Azad, Yog Raj Sharma, Parijat Chandra, and Deependra Vikram Singh. "Tractional retinal detachment in Usher syndrome type II." Clinical and Experimental Ophthalmology 33, no. 4 (2005): 436–37. http://dx.doi.org/10.1111/j.1442-9071.2005.01014.x.

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23

Plantinga, Rutger F., Ronald J. E. Pennings, Patrick L. M. Huygen, et al. "Visual impairment in Finnish Usher syndrome type III." Acta Ophthalmologica Scandinavica 84, no. 1 (2005): 36–41. http://dx.doi.org/10.1111/j.1600-0420.2005.00507.x.

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24

Bujakowska, K. M., M. Consugar, E. Place, et al. "Targeted Exon Sequencing in Usher Syndrome Type I." Investigative Ophthalmology & Visual Science 55, no. 12 (2014): 8488–96. http://dx.doi.org/10.1167/iovs.14-15169.

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25

van Aarem, A., M. Wagenaar, E. Tonnaer, et al. "Semen Analysis in the Usher Syndrome Type 2A." ORL 61, no. 3 (1999): 126–30. http://dx.doi.org/10.1159/000027656.

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26

CAHILL, MARK T., PETER J. BARRY, and PAUL F. KENNA. "GIANT RETINAL TEAR IN USHER SYNDROME TYPE II." Retina 18, no. 2 (1998): 177. http://dx.doi.org/10.1097/00006982-199818020-00016.

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27

Kıratlı, Hayyam, and Cem Öztürkmen. "Coats-like lesions in Usher syndrome type II." Graefe's Archive for Clinical and Experimental Ophthalmology 242, no. 3 (2003): 265–67. http://dx.doi.org/10.1007/s00417-003-0818-2.

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28

Pakarinen, Leenamaija, Kaija Tuppurainen, Pekka Laippala, Maija M�ntyj�rvi, and Heikki Puhakka. "The ophthalmological course of Usher syndrome type III." International Ophthalmology 19, no. 5 (1995): 307–11. http://dx.doi.org/10.1007/bf00130927.

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29

Millán, José M., Elena Aller, Teresa Jaijo, Fiona Blanco-Kelly, Ascensión Gimenez-Pardo, and Carmen Ayuso. "An Update on the Genetics of Usher Syndrome." Journal of Ophthalmology 2011 (2011): 1–8. http://dx.doi.org/10.1155/2011/417217.

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Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous and is the most common cause underlying deafness and blindness of genetic origin. Clinically, USH is divided into three types. Usher type I (USH1) is the most severe form and is characterized by severe to profound congenital deafness, vestibular areflexia, and prepubertal onset of progressive RP. Type II (USH2) displays moderate to severe hearing loss, absence of vestibular dysfunction, and la

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30

Kim, Joon Hyung, So Ra Bang, Jin Gu Jeong, and Nam Chun Cho. "Type III Usher Syndrome in the Republic of Korea." Journal of the Korean Ophthalmological Society 61, no. 4 (2020): 444–48. http://dx.doi.org/10.3341/jkos.2020.61.4.444.

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31

Iwasaki, Satoshi, Hidekane Yoshimura, Norito Takeichi, et al. "Problem and Assignment for Distinguishing the Usher Syndrome Type." Nippon Jibiinkoka Gakkai Kaiho 115, no. 10 (2012): 894–901. http://dx.doi.org/10.3950/jibiinkoka.115.894.

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32

Fu, Qing, Mingchu Xu, Xue Chen, et al. "CEP78is mutated in a distinct type of Usher syndrome." Journal of Medical Genetics 54, no. 3 (2016): 190–95. http://dx.doi.org/10.1136/jmedgenet-2016-104166.

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33

Cockey, Carolyn Davis. "Early Diagnosis of Usher Syndrome Type 1 Now Possible." AWHONN Lifelines 7, no. 4 (2003): 314. http://dx.doi.org/10.1111/j.1552-6356.2003.tb00117.x.

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34

FARKAS, A., B. LESCH, B. VARSANYI, and R. VA'MOS. "Phenotype characteristics of patients with Usher syndrome type 2." Acta Ophthalmologica Scandinavica 85 (October 2, 2007): 0. http://dx.doi.org/10.1111/j.1600-0420.2007.01062_3240.x.

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35

Ebermann, I., M. H. J. Wiesen, E. Zrenner, et al. "GPR98 mutations cause Usher syndrome type 2 in males." Journal of Medical Genetics 46, no. 4 (2009): 277–80. http://dx.doi.org/10.1136/jmg.2008.059626.

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36

Miner, I. D. "People with Usher Syndrome, Type II: Issues and Adaptations." Journal of Visual Impairment & Blindness 91, no. 6 (1997): 579–89. http://dx.doi.org/10.1177/0145482x9709100610.

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People with Usher syndrome, Type II, were born hard-of-hearing and undergo the progressive loss of vision from adolescence onward—changes that require multiple adaptations. This article describes what they experience in childhood, adolescence, and adulthood; discusses the lack of appropriate services and the failure of professionals to provide sufficient information on the condition; and stresses the importance of access to information and the acquisition of new skills as early as possible before the visual impairment becomes severe.

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37

Liu, Xue Z., Simon I. Angeli, Kaukab Rajput, et al. "Cochlear implantation in individuals with Usher type 1 syndrome." International Journal of Pediatric Otorhinolaryngology 72, no. 6 (2008): 841–47. http://dx.doi.org/10.1016/j.ijporl.2008.02.013.

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38

Flores-Guevara, Roberto, Francis Renault, Natalie Loundon, et al. "Usher syndrome type 1: Early detection of electroretinographic changes." European Journal of Paediatric Neurology 13, no. 6 (2009): 505–7. http://dx.doi.org/10.1016/j.ejpn.2008.10.002.

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39

Kimberling, William J., Michael D. Weston, Claes Möller, et al. "Localization of Usher syndrome type II to chromosome 1q." Genomics 7, no. 2 (1990): 245–49. http://dx.doi.org/10.1016/0888-7543(90)90546-7.

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40

Tosi, Gian Marco. "Usher Syndrome Type 1 Associated With Primary Ciliary Aplasia." Archives of Ophthalmology 121, no. 3 (2003): 407. http://dx.doi.org/10.1001/archopht.121.3.407.

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41

Sun, John C., Adriaan M. van Alphen, Mariette Wagenaar, et al. "Origin of Vestibular Dysfunction in Usher Syndrome Type 1B." Neurobiology of Disease 8, no. 1 (2001): 69–77. http://dx.doi.org/10.1006/nbdi.2000.0358.

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42

Yadav, Bishal, Tunam Khadka, Toyendra Jung Shah, Mandish Prasad Phuyal, Rajesh Lamichane, and Bikash Chaurasiya. "Pediatric Usher Syndrome Type 2A with Coexisting Rheumatic Heart Disease and Upper Gastro-Intestinal Bleed: A Case Report." Journal of Nepal Medical Association 62, no. 280 (2024): 847–49. https://doi.org/10.31729/jnma.8849.

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Usher syndrome is a rare autosomal recessive disorder characterized by progressive sensorineural hearing loss and retinitis pigmentosa, typically present from birth and later symptoms, including loss of night vision and peripheral vision slowly progressing to blindness. The condition exhibits clinical and genetic diversity and currently lacks the definitive treatment. This report presents a case of a ten-year-old female diagnosed with Usher syndrome type IIA via whole exome sequencing. The delayed onset of visual symptoms often leads to a misdiagnosis to isolated deafness in early years. The e

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43

Colombo, L., B. Sala, G. Montesano, et al. "Choroidal Thickness Analysis in Patients with Usher Syndrome Type 2 Using EDI OCT." Journal of Ophthalmology 2015 (2015): 1–6. http://dx.doi.org/10.1155/2015/189140.

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To portray Usher Syndrome type 2, analyzing choroidal thickness and comparing data reported in published literature on RP and healthy subjects.Methods. 20 eyes of 10 patients with clinical signs and genetic diagnosis of Usher Syndrome type 2. Each patient underwent a complete ophthalmologic examination including Best Corrected Visual Acuity (BCVA), intraocular pressure (IOP), axial length (AL), automated visual field (VF), and EDI OCT. Both retinal and choroidal measures were measured. Statistical analysis was performed to correlate choroidal thickness with age, BCVA, IOP, AL, VF, and RT. Comp

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44

Cuzzuol, Beatriz Rocha, Jonathan Santos Apolonio, Ronaldo Teixeira da Silva Júnior, et al. "Usher syndrome: Genetic diagnosis and current therapeutic approaches." World Journal of Otorhinolaryngology 11, no. 1 (2024): 1–17. http://dx.doi.org/10.5319/wjo.v11.i1.1.

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Usher Syndrome (USH) is the most common deaf-blind syndrome, affecting approximately 1 in 6000 people in the deaf population. This genetic condition is characterized by a combination of hearing loss (HL), retinitis pigmentosa, and, in some cases, vestibular areflexia. Among the subtypes of USH, USH type 1 is considered the most severe form, presenting profound bilateral congenital deafness, vestibular areflexia, and early onset RP. USH type 2 is the most common form, exhibiting congenital moderate to severe HL for low frequencies and severe to profound HL for high frequencies. Conversely, type

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45

Moteki, Hideaki, Hidekane Yoshimura, Hela Azaiez, et al. "USH2 Caused by GPR98 Mutation Diagnosed by Massively Parallel Sequencing in Advance of the Occurrence of Visual Symptoms." Annals of Otology, Rhinology & Laryngology 124, no. 1_suppl (2015): 123S—128S. http://dx.doi.org/10.1177/0003489415574070.

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Objective: We present 2 patients who were identified with mutations in the GPR98 gene that causes Usher syndrome type 2 (USH2). Methods: One hundred ninety-four (194) Japanese subjects from unrelated families were enrolled in the study. Targeted genomic enrichment and massively parallel sequencing of all known nonsyndromic hearing loss genes were used to identify the genetic causes of hearing loss. Results: We identified causative mutations in the GPR98 gene in 1 family (2 siblings). The patients had moderate sloping hearing loss, and no progression was observed over a period of 10 years. Fund

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46

Miner, I. D. "Psychosocial Implications of Usher Syndrome, Type I, throughout the Life Cycle." Journal of Visual Impairment & Blindness 89, no. 3 (1995): 287–96. http://dx.doi.org/10.1177/0145482x9508900317.

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Usher syndrome, Type I, requires multiple adaptations throughout the life cycle because each stage of life has tasks and losses associated with deafness and progressive retinitis pigmentosa. This article examines the issues raised at each stage, using clinical vignettes from persons who have this condition and their families.

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47

Nakanishi, Hiroshi, Satoshi Iwasaki, Yoshinori Takizawa, Yasuyuki Hashimoto, Kunihiro Mizuta, and Hiroyuki Mineta. "An Atypical Usher Syndrome Type 2 Patient with USH2A Mutations." Practica Oto-Rhino-Laryngologica 103, no. 5 (2010): 413–19. http://dx.doi.org/10.5631/jibirin.103.413.

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48

Miner, Ilene. "The impact of Usher syndrome, type I, on adolescent development." Journal of Vocational Rehabilitation 6, no. 2 (1996): 159–66. http://dx.doi.org/10.3233/jvr-1996-6207.

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49

Gerber, S., D. Larget-Piet, J. M. Rozet, et al. "Evidence for a fourth locus in Usher syndrome type I." Journal of Medical Genetics 33, no. 1 (1996): 77–79. http://dx.doi.org/10.1136/jmg.33.1.77.

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50

van Aarem, Annelies, Cor W. R. J. Cremers, Alfred J. L. G. Pinckers, Patrick L. M. Huygen, Godfried C. J. H. Hombergen, and Bill J. Kimberling. "The Usher syndrome type 2A: clinical findings in obligate carriers." International Journal of Pediatric Otorhinolaryngology 31, no. 2-3 (1995): 159–74. http://dx.doi.org/10.1016/0165-5876(94)01081-8.

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