1. Outer Retinal Changes Including the Ellipsoid Zone Band in Usher Syndrome 1B due to MYO7A Mutations

    Outer Retinal Changes Including the Ellipsoid Zone Band in Usher Syndrome 1B due to MYO7A Mutations

    Purpose : To study transition zones from normal to abnormal retina in Usher syndrome IB (USH1B) caused by myosin 7A ( MYO7A ) mutations. Methods : Optical coherence tomography (OCT) scattering layers in outer retina were segmented in patients ( n = 16, ages 2–42; eight patients had serial data, average interval 4.5 years) to quantify outer nuclear layer (ONL) and outer segments (OS) as well as the locus of EZ (ellipsoid zone) edge and its extent from the fovea. Static perimetry was measured under dark-adapted (DA) and light-adapted (LA) conditions. Results : Ellipsoid zone edge in USH1B- MYO7A could be located up to 23 ...

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