Inherited causes of combined vision and hearing loss: clinical features and molecular genetics
Br J Ophthalmol. 2022 Sep 26:bjophthalmol-2022-321790. doi: 10.1136/bjo-2022-321790. Online ahead of print.ABSTRACTCombined 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.PMID:36162969 | DOI:10.1136/bjo-2022-321790
Source: The British Journal of Ophthalmology - Category: Opthalmology Authors: Thales Antonio Cabral de Guimaraes Elizabeth Arram Ahmed F Shakarchi Michalis Georgiou Michel Michaelides Source Type: research
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