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.
Preview |
Text
Michaelides_Review_hearing_loss_final_clean_AFS_MG_TG_MM.pdf - Accepted Version Download (442kB) | Preview |
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 |
Archive Staff Only
View Item |