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Norrie Disease: for professionals - Gene Vision
https://gene.vision/knowledge-base/norrie-disease-for-professionals/#:~:text=Norrie%20disease%20is%20a%20rare%20disorder%20caused%20by,or%20shortly%20after%2C%20and%20progressive%20sensorineural%20hearing%20loss.
Audiologic Features of Norrie Disease - Chris Halpin ...
https://journals.sagepub.com/doi/10.1177/000348940511400707
The hearing loss associated with Norrie disease has been shown in a genetically altered knockout mouse to involve dysfunction of the stria vascularis; most other structures are preserved until the later stages of the disease.
Audiologic Features of Norrie Disease | Request PDF
https://www.researchgate.net/publication/7627468_Audiologic_Features_of_Norrie_Disease
Norrie disease (ND) is an X-linked recessive disorder characterized by congenital blindness, progressive sensorineural hearing loss and cognitive impairment.
Audiologic Features of Norrie Disease
https://www.kerwa.ucr.ac.cr/handle/10669/15119
Results: The audiologic results for 12 affected individuals and 10 carriers show that patients with Norrie disease retain high speech intelligibility scores even when the threshold loss is severe. Conclusions: The cochlear mechanism — failure of the stria vascularis — accounts for some of the higher values in the wide distribution of speech scores in cases with similar pure tone and …
Norrie Disease - American Academy of Ophthalmology
https://www.aao.org/disease-review/norrie-disease
Male patients with classic ND present with 3 cardinal features: infantile blindness usually at birth or during the neonatal period, progressive hearing loss that begins in adolescence, and cognitive/behavioral issues that persist through life. 1,5 Ocular manifestations are uniformly present and are the first sign of disease. 2
Norrie disease - Wikipedia
https://en.wikipedia.org/wiki/Norrie_disease
Auditory symptoms (affect the ear) are common with Norrie disease. Progressive hearing loss has been reported to occur in 85–90% of patients and onset is generally in childhood and before the patient reaches their mid-20s. Early hearing loss is sensorineural (caused by damage to the inner ear or auditory nerve), mild and asymmetric.
Audiologic Features of Norrie Disease - CORE
https://core.ac.uk/display/67714041
The hearing loss associated with Norrie disease has been shown in a genetically altered knockout mouse to involve dysfunction of the stria vascularis; most other structures are preserved until the later stages of the disease.
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