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Article

Investigation of Aberrant Splicing Induced byAIPL1Variations as a Cause of Leber Congenital Amaurosis

9 Dec 2015

Abstract excerpt

PURPOSE: Biallelic mutations in AIPL1 cause Leber congenital amaurosis (LCA), a devastating retinal degeneration characterized by the loss or severe impairment of vision within the first few years of life. AIPL1 is highly polymorphic with more than 50 mutations and many more polymorphisms of uncertain pathogenicity identified. As such, it can be difficult to assign disease association of AIPL1 variations. In this...

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PMID: 26650897
DOI: 10.1167/iovs.15-18092

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