Two possible mechanisms of their pathogenicity were suggested: aggresomes of mutant AIPL1 accumulate in the photoreceptors of LCA patients carrying such mutations, and this mislocalization and accumulation trigger apoptosis, or alternatively, the pathology may simply arise from an absence or insufficiency of functional AIPL1 protein [116]. The gene discussed is AIPL1; the disease is Leber congenital amaurosis.