Article
Multiexon deletion alleles of ATF6 linked to achromatopsia.
JCI insight - 9 Apr 2020
Lee Eun-Jin, Chiang Wei-Chieh Jerry, Kroeger Heike, Bi Chloe Xiaoke, Chao Daniel L, Skowronska-Krawczyk Dorota, Mastey Rebecca R, Tsang Stephen H, Chea Leon, Kim Kyle, Lambert Scott R, Grandjean Julia Md, Baumann Britta, Audo Isabelle, Kohl Susanne, Moore Anthony T, Wiseman R Luke, Carroll Joseph, Lin Jonathan H
Abstract excerpt
Achromatopsia (ACHM) is an autosomal recessive disease that results in severe visual loss. Symptoms of ACHM include impaired visual acuity, nystagmus, and photoaversion starting from infancy; furthermore, ACHM is associated with bilateral foveal hypoplasia and absent or severely reduced cone photoreceptor function on electroretinography. Here, we performed genetic sequencing in 3 patients from 2 families with...
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