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A Novel Nonsense Mutation(c.1499C>G) in CRB1 Caused Leber Congenital Amaurosis-8 in a Chinese Family and Literature Review

2022-02-17

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<title>Abstract</title> <p><bold>Background:</bold>Leber’s congenital amaurosis (LCA) is a severe hereditary retinopathy disease that is characterized by early and severe reduction of vision,nystagmus,sluggish or absent pupillary responses. To date, the pathogenesis of LCA remains unclear,and the majority cases are caused by autosomal recessive inheritance. In this study, we explored the mutation in the Crumbs ho...

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Literature Corpus work
a2892b55-f04e-59f1-9c7e-4f7be6ceee6a
DOI
10.21203/rs.3.rs-1281744/v1
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