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

Authors :
Cabral de Guimaraes, Thales Antonio
Arram, Elizabeth
Shakarchi, Ahmed F.
Georgiou, Michalis
Michaelides, Michel
Source :
British Journal of Ophthalmology; Oct2023, Vol. 107 Issue 10, p1403-1414, 12p
Publication Year :
2023

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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
00071161
Volume :
107
Issue :
10
Database :
Complementary Index
Journal :
British Journal of Ophthalmology
Publication Type :
Academic Journal
Accession number :
173245621
Full Text :
https://doi.org/10.1136/bjophthalmol-2022-321790