Article
Current perspectives in Leber congenital amaurosis type 8 mouse modeling.
Developmental dynamics : an official publication of the American Association of Anatomists - 1 Jul 2022
Nahar Ankur, Cho Seo-Hee
Abstract excerpt
Mutations in the CRB1 (Crumbs homolog 1) cause rare retinal diseases like retinitis pigmentosa type 12 (RP12) and Leber congenital amaurosis type 8 (LCA8). RP12 results in progressively worsening peripheral vision, whereas LCA8 causes severe visual impairment at birth or in early life. While several mouse models have been proposed for RP12, few replicate the full spectrum of human LCA8 pathology, such as...
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