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PedAM

Pediatric Disease Annotations & Medicines




Disease retinitis
Phenotype C0018784|sensorineural hearing loss
Sentences 2
PubMedID- 22013448 Usher syndrome is one of the most common cause of deaf blindness in humans [44], and it is an autosomal recessive syndromic hearing loss characterized by sensory impairment of ears and eyes, which results in congenital sensorineural hearing loss with progressive retinitis pigmentosa, and posteriorly, retina degeneration, loss of night vision after 10 years of age, restriction of visual field and sometimes blindness in adolescence.
PubMedID- 21804060 Background: usher syndrome (ush) is a group of autosomal recessive diseases characterized by the association of retinitis pigmentosa with sensorineural hearing loss.

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