Article
Novel mutation identified in Leber congenital amaurosis - a case report.
BMC ophthalmology - 31 Jul 2020
Sato Shigeru, Morimoto Takeshi, Tanaka Sayaka, Hotta Kikuko, Fujikado Takashi, Tsujikawa Motokazu, Nishida Kohji
Abstract excerpt
BACKGROUND: Leber congenital amaurosis (LCA) is the earliest onset and the most severe form of all inherited retinal degenerative disorders, characterized by blindness, or severe visual impairment from birth, and typically exhibits clinical and genetic heterogeneity. Recently, 14 causative genes of LCA were reported. We performed whole-exome sequencing (WES) for Japanese siblings, and identified a novel...
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