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

Thales Antonio Cabral de GuimaraesElizabeth ArramAhmed F ShakarchiMichalis GeorgiouMichel Michaelides
Published in: The British journal of ophthalmology (2022)
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.
Keyphrases
  • mitochondrial dna
  • copy number
  • hearing loss
  • case report
  • genome wide
  • optical coherence tomography
  • diabetic retinopathy
  • dna methylation
  • optic nerve