Article
Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy.
Documenta ophthalmologica. Advances in ophthalmology - 1 Feb 2015
Kuniyoshi Kazuki, Ikeo Kazuho, Sakuramoto Hiroyuki, Furuno Masaaki, Yoshitake Kazutoshi, Hatsukawa Yoshikazu, Nakao Akira, Tsunoda Kazushige, Kusaka Shunji, Shimomura Yoshikazu, Iwata Takeshi
Abstract excerpt
PURPOSE: To report novel mutations in the CRB1 gene in two patients with early-onset retinal dystrophy (EORD) and the longitudinal clinical course of EORD. PATIENTS AND METHODS: The patients were two unrelated Japanese children. Standard ophthalmic examinations including perimetry, electroretinography, and optical coherence tomography were performed on both patients. Whole exomes of the patients and their...
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