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Ophthalmic Genetics Volume 41, 2020 - Issue 5
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Atypical and ultra-rare Usher syndrome: a review

Rosalie M. Nolena Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USAView further author information
,
Robert B. Hufnagela Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USAView further author information
,
Thomas B. Friedmanb Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USAORCID Iconhttps://orcid.org/0000-0003-4614-6630View further author information
ORCID Icon,
Amy E. Turriffa Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USAView further author information
,
Carmen C. Brewerc Otolaryngology Branch, National Institute of Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USAView further author information
,
Christopher K. Zalewskic Otolaryngology Branch, National Institute of Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USAView further author information
,
Kelly A. Kingc Otolaryngology Branch, National Institute of Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USAView further author information
,
Talah T. Wafac Otolaryngology Branch, National Institute of Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USAView further author information
,
Andrew J. Griffithc Otolaryngology Branch, National Institute of Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USAView further author information
,
Brian P. Brooksa Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USAORCID Iconhttps://orcid.org/0000-0003-2320-2396View further author information
ORCID Icon &
Wadih M. Zeina Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USACorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-3771-6120View further author information
ORCID Icon show all
Pages 401-412 | Received 27 Dec 2019, Accepted 15 Mar 2020, Published online: 06 May 2020

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Rakesh Radhakrishnan, Venkateshwara R. Dronamraju, Matthias Leung, Andrew Gruesen, Ashish K. Solanki, Stephen Walterhouse, Heidi Roehrich, Grace Song, Rafael da Costa Monsanto, Sebahattin Cureoglu, René Martin, Altaf A. Kondkar, Frederik J. van Kuijk, Sandra R. Montezuma, Hans-Joachim Knöelker, Robert B. Hufnagel & Glenn P. Lobo. (2022) The role of motor proteins in photoreceptor protein transport and visual function. Ophthalmic Genetics 43:3, pages 285-300.
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Austin D. Igelman, Cristy Ku, Mariana Matioli da Palma, Michalis Georgiou, Elena R. Schiff, Byron L. Lam, Eeva-Marja Sankila, Jeeyun Ahn, Lindsey Pyers, Ajoy Vincent, Juliana Maria Ferraz Sallum, Wadih M. Zein, Jin Kyun Oh, Ramiro S. Maldonado, Joseph Ryu, Stephen H. Tsang, Michael B. Gorin, Andrew R. Webster, Michel Michaelides, Paul Yang & Mark E. Pennesi. (2021) Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome. Ophthalmic Genetics 42:6, pages 664-673.
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Nicholas H. Fowler, May I. El-Rashedy, Emad A. Chishti, Craig W. Vander Kooi & Ramiro S. Maldonado. (2021) Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome. Ophthalmic Genetics 42:3, pages 338-343.
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Articles from other publishers (14)

Ryan Crane, Lars Tebbe, Maggie L. Mwoyosvi, Muayyad R. Al-Ubaidi & Muna I. Naash. (2023) Expression of the human usherin c.2299delG mutation leads to early-onset auditory loss and stereocilia disorganization. Communications Biology 6:1.
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Erfan Khorram, Omid Iravani, Mehdi Khorrami, Masoomeh Amini, Sara Jahanian, Mohammad Hossein Nilforoush, Seyyed Reza Mousavi, Mahsa Ehsanifard & Majid Kheirollahi. (2023) A Novel Biallelic Variant in CDH23 Gene in a Family with Atypical USH1D Manifestation: A Literature Review and Investigation of Genotype-Phenotype Correlation. Audiology and Neurotology 28:4, pages 317-326.
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Katelyn N. Robillard, Erik de Vrieze, Erwin van Wijk & Jennifer J. Lentz. (2022) Altering gene expression using antisense oligonucleotide therapy for hearing loss. Hearing Research 426, pages 108523.
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Ángela Camila Paredes, Greizy López, Nancy Gelvez & Marta Lucía Tamayo. (2022) Caracterización fenotípica de la retinitis pigmentaria asociada a sordera. Biomédica 42:Sp. 1, pages 130-143.
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Sedigheh Delmaghani & Aziz El-Amraoui. (2022) The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification. Human Genetics 141:3-4, pages 709-735.
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Alessandro Castiglione & Claes Möller. (2022) Usher Syndrome. Audiology Research 12:1, pages 42-65.
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Jiya Singh, Mohita Sharma, Neha Jain, Insha Aftab, Naval Vikram, TejP Singh, Pradeep Sharma & Sujata Sharma. (2022) Lactoferrin and its nano-formulations in rare eye diseases. Indian Journal of Ophthalmology 70:7, pages 2328.
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Eric NisenbaumTorin P. ThielhelmAida Nourbakhsh, Denise Yan, Susan H. Blanton, Yilai Shu, Karl R. Koehler, Aziz El-Amraoui, Zhengyi Chen, Byron L. Lam & Xuezhong Liu. (2022) Review of Genotype-Phenotype Correlations in Usher Syndrome. Ear & Hearing 43:1, pages 1-8.
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Julia Dlugaiczyk. (2021) Seltene Erkrankungen des vestibulären Labyrinths: von Zebras, Chamäleons und Wölfen im Schafspelz. Laryngo-Rhino-Otologie 100:S 01, pages S1-S40.
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Talah T. Wafa, Rabia Faridi, Kelly A. King, Christopher Zalewski, Rizwan Yousaf, Julie M. Schultz, Robert J. Morell, Julie Muskett, Amy Turriff, Ekaterini Tsilou, Andrew J. Griffith, Thomas B. Friedman, Wadih M. Zein & Carmen C. Brewer. (2020) Vestibular phenotype‐genotype correlation in a cohort of 90 patients with Usher syndrome . Clinical Genetics 99:2, pages 226-235.
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Astra Dinculescu, Brian A. Link & David A. Saperstein. (2021) Retinal Gene Therapy for Usher Syndrome: Current Developments, Challenges, and Perspectives. International Ophthalmology Clinics 61:4, pages 109-124.
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Aumer Shughoury, Thomas A. Ciulla, Benjamin Bakall, Mark E. Pennesi, Szilárd Kiss & Emmett T. Cunningham. (2021) Genes and Gene Therapy in Inherited Retinal Disease. International Ophthalmology Clinics 61:4, pages 3-45.
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Meg Whatley, Abbie Francis, Zi Ying Ng, Xin Ee Khoh, Marcus D. Atlas, Rodney J. Dilley & Elaine Y. M. Wong. (2020) Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy. Frontiers in Genetics 11.
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Mehdi Khamaily, Salma Bajjouk, Mounia Bouchaar, Mounir Belmalih, Karim Reda & Abdelbarre Oubaaz. (2020) Usher Deafblindnes. European Journal of Medical and Health Sciences 2:4.
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