Usher syndrome: clinical signifcance

Authors

DOI:

https://doi.org/10.37711/rpcs.2023.5.1.409

Keywords:

Usher syndrome, retinitis pigmentosa, deafiness, bilateral hearing loss, blindness

Abstract

Objective. To describe the importance of Usher syndrome and its clinical
implications in different patients with auditory and visual pathology, prioritizing its diagnosis, approach and treatment. Methods. A literature search was performed in PubMed, SciELO, ScienceDirect databases, prioritizing the updated literature
of meta-analysis, observational studies, review articles and systematic reviews, in English or Spanish, published in the last 5 years, in which the relationship between Usher syndrome and visual and auditory alterations was evaluated, with the aim
of describing its importance, diagnosis and treatment. Results. Different studies evidence the direct relationship between Usher syndrome and visual and hearing loss, associating it to multiple genetic malformations. Treatment is focused on rehabilitation therapy that allows the individual to adapt to the environment and reduce other associated comorbidities. Conclusions. Usher syndrome is an
important cause of visual and auditory dysfunction. Currently, studies continue in search of an effective treatment; however, it is important to make a timely diagnosis by means of suspicion, diagnosis and approach, to allow us to reduce its progression

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Author Biographies

Marcela Fandiño Cardenas, Hospital Internacional de Colombia, Piedecuesta, Colombia.

Physician, Pediatric Otolaryngologist

Silvia Patricia Delgado Caballero, Hospital Universitario de Santander, Bucaramanga, Colombia.

Phonoaudiologist, University of Santander UDES. Audiology Graduate Student

References

Castiglione A, Möller C. Usher Syndrome. Audiol Res. 2022 Jan 11; 12(1): 42-65. doi: 10.3390/audiolres12010005

Toms M, Pagarkar W, Moosajee M. Usher syndrome: clinical features, molecular genetics and advancing therapeutics. Ther Adv Ophthalmol. 2020 Sep 17; 12: 2515841420952194. doi: 10.1177/2515841420952194

Koenekoop RK, Arriaga MA, Trzupek KM, Lentz JJ. Usher Syndrome Type I. En: adam MP, Everman DB, Mirzaa DM, Pagon RA, Wallace SE, Bean LIH, Gripp KW, Amemiya A, editores. GeneReviews. Seattle (WA): University of Washington; 1993–2023.

Delmaghani S, El-Amraoui A. The genetic and pheno typic landscapes of Usher syndrome: from disease mechanisms to a new classifcation. Hum Genet. [Internet].

Apr [Consultado 2023 Ene 20]; 141(3-4): 709-735.doi: 10.1007/s00439-022-02448-7

Koenekoop R, Arriaga M, Trzupek KM, Lentz J. Usher Syndrome Type II. En: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, et al., editores. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993–2023.

De Joya EM, Colbert BM, Tang PC, Lam BL, Yang J, Blanton SH, et al. Usher Syndrome in the Inner Ear: Etiologies and Advances in Gene Therapy. Int J Mol Sci. [Internet]. 2021 Apr 10 [Consultado 2023 Ene 24]; 22(8): 3910. doi: 10.3390/ijms22083910

Nisenbaum E, Thielhelm TP, Nourbakhsh A, Yan D, Blanton SH, Shu Y, et al. Review of Genotype-Phenotype Correlations in Usher Syndrome. Ear Hear [Internet]. 2022 Jan/Feb [Consultado: 2023 Ene 20]; 43(1): 1-8. doi: 10.1097/AUD.0000000000001066

Skilton A, Boswell E, Prince K, Francome-Wood P, Moosajee M. Superando las barreras para la participación de personas sordociegas en conversaciones sobre investigación: recomendaciones de personas con síndrome de Usher. Res. Involucrar Comprometerse [Internet]. 2018 [Consultado 2023 Ene 20]; 4: 40. doi: 10.1186/s40900-018-0124-0

Wafa TT, Faridi R, King KA, Zalewski C, Yousaf R, Schultz JM, et al. Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome. Clin Genet. [Internet]. 2021 Feb [Consultado 2023 Ene 20]; 99(2): 226-235. doi: 10.1111/cge.13868

Galbis-Martínez L, Blanco-Kelly F, García-García G, Ávila-Fernández A, Jaijo T, Fuster-García C, et al. Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials. Acta Ophthalmol. [Internet]. 2021 Dec [Consultado 2023 Ene 20]; 99(8): 922-930. doi: 10.1111/aos.14795

Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, et al. Comprehensive Molecular Screening in Chinese Usher Syndrome Patients. nvest Ophthalmol Vis Sci [Internet]. 2018 Mar 1 [Consultado 2023 Ene 20]; 59(3): 1229-1237. doi: 10.1167/iovs.17-23312

Mathur PD, Yang J. Usher syndrome and non-syndromicdeafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina. Hear Res. [Internet]. 2019 Apr [Consultado 2023 Ene 20]; 375: 14-24. doi: 10.1016/j.heares.2019.02.007

Paredes ÁC, López G, Gelvez N, Tamayo ML. Caracterización fenotípica de la retinitis pigmentaria asociada a sordera. Biomed. [Internet]. 2022 May [Consultado 2023 Ene 20]; 42(Supl.1):130-43. doi: https://doi.org/10.7705/biomedica.6129

Dyce GB, Mejías MJ, Copello NM, Hernández BR, Horrach RI. Aspectos genéticos y clínicos del síndrome de usher. Rev Cubana Oftalmol [Internet]. 2000 Dic [Consultado 2023 Ene 20]; 13(2): 79-83. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttextid=S0864-21762000000200003&lng=es

López G, Gelvez NY, Tamayo M. Frecuencia de mutaciones en el gen de la usherina (USH2A) en 26 individuos colombianos con síndrome de Usher, tipo II. Biomédica

[Internet]. 2011 Mar [Consultado 2023 Ene 20]; 31:82-90. Disponible en: http://www.scielo.org.co/scielo.php?script=sci_arttext&pid=S0120-41572011000100010&lng=en

Zaheer HA, Parameswarappa DC, Zaheer MA, Chhablani J, Patil-Chhablani P. Ocular Manifestations in Patients with Sensorineural Hearing Loss. J Ophthalmic Vis Res.

[Internet]. 2022 Nov 29 [Consultado 2023 Ene 20]; 17(4): 551-573. doi: 10.18502/jovr.v17i4.12321

Stiff HA, Sloan-Heggen CM, Ko A, Pfeifer WL, Kolbe DL, Nishimura CJ, et al. Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss. Ophthalmic Genet. [Internet]. 2020 Apr [Consultado 2023 Ene 20]; 41(2):

-158. doi: 10.1080/13816810.2020.1747088

Adadey SM, Wonkam-Tingang E, Aboagye ET, Quaye O, Awandare GA, Wonkam A. Hearing loss in Africa: current genetic profle. Hum Genet. [Internet]. 2022 Apr [Consultado 2023 Ene 20]; 141(3-4): 505-517. doi: 10.1007/s00439-021-02376-y

Published

2023-01-12

How to Cite

1.
Fandiño Cardenas M, Delgado Caballero SP, Camelo Pardo G. Usher syndrome: clinical signifcance. revista de salud udh [Internet]. 2023Jan.12 [cited 2024Jul.3];5(2):149-53. Available from: http://revistas.udh.edu.pe/index.php/RPCS/article/view/409e

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