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MYO7A-Related Disorders

MedGen UID:
893661
•Concept ID:
CN239407
•
Disease or Syndrome

Recent clinical studies

Etiology

Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation.
Lenassi E, Saihan Z, Cipriani V, Le Quesne Stabej P, Moore AT, Luxon LM, Bitner-Glindzicz M, Webster AR
Ophthalmology 2014 Feb;121(2):580-7. Epub 2013 Nov 5 doi: 10.1016/j.ophtha.2013.09.017. PMID: 24199935

Diagnosis

The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.
Watanabe K, Nishio SY, Usami SI; Deafness Gene Study Consortium
Sci Rep 2024 Apr 9;14(1):8326. doi: 10.1038/s41598-024-57415-1. PMID: 38594301Free PMC Article
Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation.
Lenassi E, Saihan Z, Cipriani V, Le Quesne Stabej P, Moore AT, Luxon LM, Bitner-Glindzicz M, Webster AR
Ophthalmology 2014 Feb;121(2):580-7. Epub 2013 Nov 5 doi: 10.1016/j.ophtha.2013.09.017. PMID: 24199935

Clinical prediction guides

Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation.
Lenassi E, Saihan Z, Cipriani V, Le Quesne Stabej P, Moore AT, Luxon LM, Bitner-Glindzicz M, Webster AR
Ophthalmology 2014 Feb;121(2):580-7. Epub 2013 Nov 5 doi: 10.1016/j.ophtha.2013.09.017. PMID: 24199935

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