Syndromic ophthalmogenetic disease with hearing impairment
Journal Title: Eye Science (Yanke Xuebao) - Year 2023, Vol 38, Issue 5
Abstract
Heredity plays an important role in the pathogenesis of eye and ear dysfunction in children and adolescents. Because of common neural endodermal and ectodermal origins, the eyes and ears have the similar networks of genes Therefore, when pathogenic mutations occur in common genes, it can lead to loss of double sensation in the eyes and ears. There are more than 70 etiologies associated with the deafblindness, including CHARGE, Usher, Down, Stickler, Alport, Wolfram and Waardenbur syndromes, which are the most common syndromic ophthalmic genetic diseases with hearing and optic nerve/retinal abnormalities. Other abnormalities such as chromosomal and embryonic abnormalities can also lead to hearing and vision impairment, like Down and Dandy Walker syndromes. Some known genetic variants in ocular genetic diseases can also lead to hearing loss, such as OPA1 gene. Due to genetic heterogeneity, the clinical diagnosis of ocular and ear syndrome is often difficult, especially for infants and young children. With understanding the clinical features of eyes and ears in genetic syndrome, is conducive to early detection and accurate diagnosis, and when the ocular phenotype in the syndrome is atypical, it can be assisted by other systematic phenotypes such as the ear. At the same time, clear diagnosis is important for lifelong monitoring of visual and auditory function, as well as for eugenic genetic counseling.
Authors and Affiliations
Lei ZHANG, Haiyan WANG
Keywords
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- EP ID EP764651
- DOI 10.12419/j.issn.1000-4432.2023.05.10
- Views 15
- Downloads 0
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