Studies of the Periciliary Membrane Complex in the Syrian Hamster Photoreceptor.

Abstract excerpt

Mutations in USH2A, ADGRV1, and WHRN genes cause Usher syndrome type 2 (USH2) and retinitis pigmentosa (RP). The proteins encoded by these genes form the periciliary membrane complex (PMC) in photoreceptors. Unlike patients, who show retinal degeneration in their second decade of life, mice carrying USH2 mutations have very-late-onset retinal degeneration, although the PMC is disrupted. A similar weak retinal...

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