Usher Deafblindnes

Mehdi Khamaily; Salma Bajjouk; Mounia Bouchaar; Mounir Belmalih; Karim Reda; Abdelbarre Oubaaz

doi:10.24018/ejmed.2020.2.4.380

Research Article

Mehdi Khamaily

Mohammed V Military Teaching Hospital, Morocco

* Corresponding author

Salma Bajjouk

Cheikh Khalifa International University Hospital, Morocco

Mounia Bouchaar

Cheikh Khalifa International University Hospital, Casablanca

Mounir Belmalih

Mohammed V Military Teaching Hospital, Morocco

Karim Reda

Mohammed V Military Teaching Hospital, Morocco

Abdelbarre Oubaaz

Mohammed V Military Teaching Hospital, Morocco

10.24018/ejmed.2020.2.4.380

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Submitted 2020-07-02
Published 2020-07-16

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Abstract

Pigmentary retinopathy refers to a group of inherited degenerative diseases of the retina, which primarily affects the photoreceptor cells in the retina. The association with congenital hearing loss defines Usher syndrome.

Usher syndrome is a rare pathology of autosomal recessive transmission with a double sensory impairment (auditory and visual). We report the observation of a 12-year-old patient from a consanguineous marriage with congenital deafness, normal vestibular function and pigmentary retinopathy composing type 2 of Usher syndrome.

Keywords: Usher Syndrome, Pigmentary retinopathy, Congenital hearing loss

References

Fishman GA, Kumar A, Joseph ME, Torok N, Aderson RJ. Usher's syndrome: Ophthalmic and neuro-otologic findings suggesting genetic heterogeneity. Arch Ophthalmol. 1983 SeP;101(9):1367–1374.
DOI | Google Scholar

Le syndrome d’Usher: à propos d’une observation Daoudi C, Boutimzine N, El Haouzi S, Lezrek O, Tachfouti S, Lezrek M, Laghmari M, Daoudi R. Pan Afr Med J. 2017; 27: 217.
DOI | Google Scholar

Feng-Juan Gao et al .Prevalence and genetic–phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease. Br J Ophthalmol 2020;0:1–6. doi:10.1136/bjophthalmol-2020-315878.
DOI | Google Scholar

Federica Cesca et al . Frequency of Usher gene mutations in non-syndromic hearing loss:higher variability of the Usher phenotype. Journal of Human Genetics doi.org/10.1038/s10038-020-0783-1 2020.
DOI | Google Scholar

Rosalie M et al . Atypical and ultra-rare Usher syndrome: a review OPHTHALMIC GENETICS https://doi.org/10.1080/13816810.2020.1747090.
DOI | Google Scholar

Evangelia S. Panagiotou et al Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome. Ophthalmol Ther https://doi.org/10.1007/s40123-020-00276-4 2020.
DOI | Google Scholar

Jeffrey N. Weiss , Steven Levy et al. Stem Cell Ophthalmology Treatment Study (SCOTS): bone marrow derived stem cells in the treatment of Usher syndrome. Stem Cell Investig 2019;6:31 | http://dx.doi.org/10.21037/sci.2019.08.07.
DOI | Google Scholar

Helene Lønborg-Møller . Yousif Subhi . Line Kessel et al. Living with Usher Syndrome: Patient and Physician Perspectives Ophthalmol Ther https://doi.org/10.1007/s40123-020-00258-6 2020.
DOI | Google Scholar

Jeroni Nadal and María Iglesias et al . Long-term visual outcomes and rehabilitation in Usher syndrome type II after retinal implant Argus II BMC Ophthalmology (2018) 18:205 https://doi.org/10.1186/s12886-018-0880-5.
DOI | Google Scholar

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Usher Deafblindnes. (2020). European Journal of Medical and Health Sciences, 2(4). https://doi.org/10.24018/ejmed.2020.2.4.380

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Vol. 2 No. 4 (2020)

[1] Fishman GA, Kumar A, Joseph ME, Torok N, Aderson RJ. Usher's syndrome: Ophthalmic and neuro-otologic findings suggesting genetic heterogeneity. Arch Ophthalmol. 1983 SeP;101(9):1367–1374.
DOI | Google Scholar

[2] Le syndrome d’Usher: à propos d’une observation Daoudi C, Boutimzine N, El Haouzi S, Lezrek O, Tachfouti S, Lezrek M, Laghmari M, Daoudi R. Pan Afr Med J. 2017; 27: 217.
DOI | Google Scholar

[3] Feng-Juan Gao et al .Prevalence and genetic–phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease. Br J Ophthalmol 2020;0:1–6. doi:10.1136/bjophthalmol-2020-315878.
DOI | Google Scholar

[4] Federica Cesca et al . Frequency of Usher gene mutations in non-syndromic hearing loss:higher variability of the Usher phenotype. Journal of Human Genetics doi.org/10.1038/s10038-020-0783-1 2020.
DOI | Google Scholar

[5] Rosalie M et al . Atypical and ultra-rare Usher syndrome: a review OPHTHALMIC GENETICS https://doi.org/10.1080/13816810.2020.1747090.
DOI | Google Scholar

[6] Evangelia S. Panagiotou et al Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome. Ophthalmol Ther https://doi.org/10.1007/s40123-020-00276-4 2020.
DOI | Google Scholar

[7] Jeffrey N. Weiss , Steven Levy et al. Stem Cell Ophthalmology Treatment Study (SCOTS): bone marrow derived stem cells in the treatment of Usher syndrome. Stem Cell Investig 2019;6:31 | http://dx.doi.org/10.21037/sci.2019.08.07.
DOI | Google Scholar

[8] Helene Lønborg-Møller . Yousif Subhi . Line Kessel et al. Living with Usher Syndrome: Patient and Physician Perspectives Ophthalmol Ther https://doi.org/10.1007/s40123-020-00258-6 2020.
DOI | Google Scholar

[9] Jeroni Nadal and María Iglesias et al . Long-term visual outcomes and rehabilitation in Usher syndrome type II after retinal implant Argus II BMC Ophthalmology (2018) 18:205 https://doi.org/10.1186/s12886-018-0880-5.
DOI | Google Scholar

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