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Br J Ophthalmol ; 107(10): 1403-1414, 2023 10.
Article in English | MEDLINE | ID: mdl-36162969

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.


Subject(s)
Bardet-Biedl Syndrome , Deaf-Blind Disorders , Humans , Retina , Bardet-Biedl Syndrome/diagnosis , Bardet-Biedl Syndrome/genetics , Phenotype , Molecular Biology
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