Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.

doi:10.1136/jmedgenet-2013-101558

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Article

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.

Journal of medical genetics - 1 Oct 2013

Wang Xia, Wang Hui, Sun Vincent, Tuan Han-Fang, Keser Vafa, Wang Keqing, Ren Huanan, Lopez Irma, Zaneveld Jacques E, Siddiqui Sorath, Bowles Stephanie, Khan Ayesha, Salvo Jason, Jacobson Samuel G, Iannaccone Alessandro, Wang Feng, Birch David, Heckenlively John R, Fishman Gerald A, Traboulsi Elias I, Li Yumei, Wheaton Dianna, Koenekoop Robert K, Chen Rui

Abstract excerpt

BACKGROUND: Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are inherited retinal diseases that cause early onset severe visual impairment. An accurate molecular diagnosis can refine the clinical diagnosis and allow gene specific treatments. METHODS: We developed a capture panel that enriches the exonic DNA of 163 known retinal disease genes. Using this panel, we performed targeted next...

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PMID: 23847139
DOI: 10.1136/jmedgenet-2013-101558
PMCID: PMC3932025

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PRPH2

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