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Article

Inherited causes of combined vision and hearing loss: clinical features and molecular genetics.

The British journal of ophthalmology - 1 Oct 2023

Guimaraes Thales Antonio Cabral de, Arram Elizabeth, Shakarchi Ahmed F, Georgiou Michalis, Michaelides Michel

Abstract excerpt

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...

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Identifiers

PMID: 36162969
DOI: 10.1136/bjo-2022-321790

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