2011; Aboshiha et al. 2015) produces a truncated protein lacking the C‐terminal 107 amino acids, including most of the TPR3 domain, disrupting AIPL1‐NUB1 binding and forming cytoplasmic inclusions (van der Spuy et al. 2002; Kanaya et al. 2004). Sohocki et al. (2000) detected the c.[834G>A];[c.277‐2A>G] combination in one LCA individual of French ethnicity. Splice site assays indicate that the c.277‐2A>G variant abolishes the intron two splice acceptor site and deletes exon 3, and may alter the transcript profile in this tissue (Bellingham et al. 2015). The gene discussed is AIPL1; the disease is Leber congenital amaurosis.