Article
Retinal disease course in Usher syndrome 1B due to MYO7A mutations.
Investigative ophthalmology & visual science - 7 Oct 2011
Jacobson Samuel G, Cideciyan Artur V, Gibbs Dan, Sumaroka Alexander, Roman Alejandro J, Aleman Tomas S, Schwartz Sharon B, Olivares Melani B, Russell Robert C, Steinberg Janet D, Kenna Margaret A, Kimberling William J, Rehm Heidi L, Williams David S
Abstract excerpt
PURPOSE. To determine the disease course in Usher syndrome type IB (USH1B) caused by myosin 7A (MYO7A) gene mutations. METHODS. USH1B patients (n = 33, ages 2-61) representing 25 different families were studied by ocular examination, kinetic and chromatic static perimetry, dark adaptometry, and optical coherence tomography (OCT). Consequences of the mutant alleles were predicted. RESULTS. All MYO7A patients had...
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