Article ; Online: Inherited causes of combined vision and hearing loss: clinical features and molecular genetics.
The British journal of ophthalmology
2022 Volume 107, Issue 10, Page(s) 1403–1414
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, ...
| 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. |
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| MeSH term(s) | Humans ; Retina ; Bardet-Biedl Syndrome/diagnosis ; Bardet-Biedl Syndrome/genetics ; Phenotype ; Deaf-Blind Disorders ; Molecular Biology |
| Language | English |
| Publishing date | 2022-09-26 |
| Publishing country | England |
| Document type | Journal Article ; Review ; Research Support, Non-U.S. Gov't |
| ZDB-ID | 80078-8 |
| ISSN | 1468-2079 ; 0007-1161 |
| ISSN (online) | 1468-2079 |
| ISSN | 0007-1161 |
| DOI | 10.1136/bjo-2022-321790 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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