Inherited causes of combined vision and hearing loss: clinical features and molecular genetics.
Where this comes from
- Record sourced from PubMed, PMID 36162969.
- Also identified by DOI 10.1136/bjo-2022-321790.
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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.
Medical subject headings
- Bardet-Biedl Syndrome
- Deaf-Blind Disorders