AIPL1 and Leber congenital amaurosis: Sequence variants in AIPL1 are associated with a relatively severe congenital LCA phenotype, with severe and rapidly progressive visual loss, accounting for less than 5% of LCA.9 59 60 Aboshiha et al investigated a worldwide cohort of 42 molecularly confirmed patients, collecting data on demographics, visual acuity, fundus examination, OCT findings and genotype.