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Inherited causes of combined vision and hearing loss: clinical features and molecular genetics

Guimaraes, Thales Antonio Cabral de; Arram, Elizabeth; Shakarchi, Ahmed F; Georgiou, Michalis; Michaelides, Michel; (2022) Inherited causes of combined vision and hearing loss: clinical features and molecular genetics. British Journal of Ophthalmology 10.1136/bjo-2022-321790. Green open access

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Abstract

Combined vision and hearing loss, also known as dual sensory impairment, can occur in several genetic conditions, including ciliopathies such as Usher and Bardet-Biedl syndrome, mitochondrial DNA disorders and systemic diseases, such as CHARGE, Stickler, Waardenburg, Alport and Alstrom syndrome. The retinal phenotype may point to the diagnosis of such disorders. Herein, we aim to provide a comprehensive review of the molecular genetics and clinical features of the most common non-chromosomal inherited disorders to cause dual sensory impairment.

Type: Article
Title: Inherited causes of combined vision and hearing loss: clinical features and molecular genetics
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1136/bjo-2022-321790
Publisher version: http://doi.org/10.1136/bjo-2022-321790
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Dystrophy, genetics, imaging, macula, retina
UCL classification: UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL
URI: https://discovery.ucl.ac.uk/id/eprint/10157374
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