AI Article Synopsis
- Combined vision and hearing loss, or dual sensory impairment, can arise from various genetic conditions, including ciliopathies and mitochondrial DNA disorders.
- Conditions like Usher syndrome, Bardet-Biedl syndrome, CHARGE, and others are notable causes of this impairment and have specific retinal phenotypes that can aid in diagnosis.
- The review focuses on the molecular genetics and clinical characteristics of the most prevalent non-chromosomal inherited disorders linked to dual sensory impairment.
Article 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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| http://dx.doi.org/10.1136/bjo-2022-321790 | DOI Listing |
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